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<ul id="toc-Signs_and_symptoms-sublist" class="vector-toc-list"> <li id="toc-Physical_signs" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Physical_signs"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.1</span> <span>Physical signs</span> </div> </a> <ul id="toc-Physical_signs-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Cardiovascular_disease" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Cardiovascular_disease"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.2</span> <span>Cardiovascular disease</span> </div> </a> <ul id="toc-Cardiovascular_disease-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Diagnosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Diagnosis</span> </div> </a> <button 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class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Differential_diagnosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.3</span> <span>Differential diagnosis</span> </div> </a> <ul id="toc-Differential_diagnosis-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Genetics" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Genetics"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Genetics</span> </div> </a> <button aria-controls="toc-Genetics-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Genetics subsection</span> </button> <ul id="toc-Genetics-sublist" class="vector-toc-list"> <li id="toc-LDL_receptor" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#LDL_receptor"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.1</span> <span>LDL receptor</span> </div> </a> <ul id="toc-LDL_receptor-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Apolipoprotein_B" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Apolipoprotein_B"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.2</span> <span>Apolipoprotein B</span> </div> </a> <ul id="toc-Apolipoprotein_B-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-PCSK9" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#PCSK9"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.3</span> <span>PCSK9</span> </div> </a> <ul id="toc-PCSK9-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-LDLRAP1" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#LDLRAP1"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.4</span> <span>LDLRAP1</span> </div> </a> <ul id="toc-LDLRAP1-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Pathophysiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Pathophysiology"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Pathophysiology</span> </div> </a> <ul id="toc-Pathophysiology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Screening" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Screening"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Screening</span> </div> </a> <ul id="toc-Screening-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Treatment" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Treatment"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Treatment</span> </div> </a> <button aria-controls="toc-Treatment-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Treatment subsection</span> </button> <ul id="toc-Treatment-sublist" class="vector-toc-list"> <li id="toc-Heterozygous_FH" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Heterozygous_FH"> <div class="vector-toc-text"> <span class="vector-toc-numb">6.1</span> <span>Heterozygous FH</span> </div> </a> <ul id="toc-Heterozygous_FH-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Homozygous_FH" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Homozygous_FH"> <div class="vector-toc-text"> <span class="vector-toc-numb">6.2</span> <span>Homozygous FH</span> </div> </a> <ul id="toc-Homozygous_FH-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Children" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Children"> <div class="vector-toc-text"> <span class="vector-toc-numb">6.3</span> <span>Children</span> </div> </a> <ul id="toc-Children-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Epidemiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Epidemiology"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>Epidemiology</span> </div> </a> <ul id="toc-Epidemiology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-History" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#History"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>History</span> </div> </a> <ul id="toc-History-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">10</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">11</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Toggle the table of contents" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Toggle the table of contents</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Familial hypercholesterolemia</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Go to an article in another language. Available in 24 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-24" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">24 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar badge-Q17437798 badge-goodarticle mw-list-item" title="good article badge"><a href="https://ar.wikipedia.org/wiki/%D9%81%D8%B1%D8%B7_%D9%83%D9%88%D9%84%D9%8A%D8%B3%D8%AA%D8%B1%D9%88%D9%84_%D8%A7%D9%84%D8%AF%D9%85_%D8%A7%D9%84%D8%B9%D8%A7%D8%A6%D9%84%D9%8A" title="فرط كوليسترول الدم العائلي – Arabic" lang="ar" hreflang="ar" data-title="فرط كوليسترول الدم العائلي" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Hipercolesterol%C3%A8mia_familiar" title="Hipercolesterolèmia familiar – Catalan" lang="ca" hreflang="ca" data-title="Hipercolesterolèmia familiar" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-el mw-list-item"><a href="https://el.wikipedia.org/wiki/%CE%9F%CE%B9%CE%BA%CE%BF%CE%B3%CE%B5%CE%BD%CE%AE%CF%82_%CF%85%CF%80%CE%B5%CF%81%CF%87%CE%BF%CE%BB%CE%B7%CF%83%CF%84%CE%B5%CF%81%CE%BF%CE%BB%CE%B1%CE%B9%CE%BC%CE%AF%CE%B1" title="Οικογενής υπερχοληστερολαιμία – Greek" lang="el" hreflang="el" data-title="Οικογενής υπερχοληστερολαιμία" data-language-autonym="Ελληνικά" data-language-local-name="Greek" class="interlanguage-link-target"><span>Ελληνικά</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Hipercolesterolemia_familiar" title="Hipercolesterolemia familiar – Spanish" lang="es" hreflang="es" data-title="Hipercolesterolemia familiar" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%87%DB%8C%D9%BE%D8%B1%DA%A9%D9%84%D8%B3%D8%AA%D8%B1%D9%88%D9%84%D9%85%DB%8C_%D9%81%D8%A7%D9%85%DB%8C%D9%84%DB%8C" title="هیپرکلسترولمی فامیلی – Persian" lang="fa" hreflang="fa" data-title="هیپرکلسترولمی فامیلی" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Hypercholest%C3%A9rol%C3%A9mie_familiale" title="Hypercholestérolémie familiale – French" lang="fr" hreflang="fr" data-title="Hypercholestérolémie familiale" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Obiteljska_hiperkolesterolemija" title="Obiteljska hiperkolesterolemija – Croatian" lang="hr" hreflang="hr" data-title="Obiteljska hiperkolesterolemija" data-language-autonym="Hrvatski" data-language-local-name="Croatian" class="interlanguage-link-target"><span>Hrvatski</span></a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/Hiperkolesterolemia_familia" title="Hiperkolesterolemia familia – Indonesian" lang="id" hreflang="id" data-title="Hiperkolesterolemia familia" data-language-autonym="Bahasa Indonesia" data-language-local-name="Indonesian" class="interlanguage-link-target"><span>Bahasa Indonesia</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Ipercolesterolemia_familiare" title="Ipercolesterolemia familiare – Italian" lang="it" hreflang="it" data-title="Ipercolesterolemia familiare" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%94%D7%99%D7%A4%D7%A8%D7%9B%D7%95%D7%9C%D7%A1%D7%98%D7%A8%D7%95%D7%9C%D7%9E%D7%99%D7%94_%D7%9E%D7%A9%D7%A4%D7%97%D7%AA%D7%99%D7%AA" title="היפרכולסטרולמיה משפחתית – Hebrew" lang="he" hreflang="he" data-title="היפרכולסטרולמיה משפחתית" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-jv mw-list-item"><a href="https://jv.wikipedia.org/wiki/Hiperkolesterolemia_familia" title="Hiperkolesterolemia familia – Javanese" lang="jv" hreflang="jv" data-title="Hiperkolesterolemia familia" data-language-autonym="Jawa" data-language-local-name="Javanese" class="interlanguage-link-target"><span>Jawa</span></a></li><li class="interlanguage-link interwiki-lv mw-list-item"><a href="https://lv.wikipedia.org/wiki/%C4%A2imenes_hiperholesterin%C4%93mija" title="Ģimenes hiperholesterinēmija – Latvian" lang="lv" hreflang="lv" data-title="Ģimenes hiperholesterinēmija" data-language-autonym="Latviešu" data-language-local-name="Latvian" class="interlanguage-link-target"><span>Latviešu</span></a></li><li class="interlanguage-link interwiki-min mw-list-item"><a href="https://min.wikipedia.org/wiki/Hiperkolesterolemia_familia" title="Hiperkolesterolemia familia – Minangkabau" lang="min" hreflang="min" data-title="Hiperkolesterolemia familia" data-language-autonym="Minangkabau" data-language-local-name="Minangkabau" class="interlanguage-link-target"><span>Minangkabau</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Familiaire_hypercholesterolemie" title="Familiaire hypercholesterolemie – Dutch" lang="nl" hreflang="nl" data-title="Familiaire hypercholesterolemie" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E5%AE%B6%E6%97%8F%E6%80%A7%E9%AB%98%E3%82%B3%E3%83%AC%E3%82%B9%E3%83%86%E3%83%AD%E3%83%BC%E3%83%AB%E8%A1%80%E7%97%87" title="家族性高コレステロール血症 – Japanese" lang="ja" hreflang="ja" data-title="家族性高コレステロール血症" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-or mw-list-item"><a href="https://or.wikipedia.org/wiki/%E0%AC%AA%E0%AC%BE%E0%AC%B0%E0%AC%BF%E0%AC%AC%E0%AC%BE%E0%AC%B0%E0%AC%BF%E0%AC%95_%E0%AC%B9%E0%AC%BE%E0%AC%87%E0%AC%AA%E0%AC%B0%E0%AC%95%E0%AD%8B%E0%AC%B2%E0%AD%87%E0%AC%B7%E0%AD%8D%E0%AC%9F%E0%AD%87%E0%AC%B0%E0%AD%8B%E0%AC%B2%E0%AD%87%E0%AC%AE%E0%AC%BF%E0%AC%86" title="ପାରିବାରିକ ହାଇପରକୋଲେଷ୍ଟେରୋଲେମିଆ – Odia" lang="or" hreflang="or" data-title="ପାରିବାରିକ ହାଇପରକୋଲେଷ୍ଟେରୋଲେମିଆ" data-language-autonym="ଓଡ଼ିଆ" data-language-local-name="Odia" class="interlanguage-link-target"><span>ଓଡ଼ିଆ</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Hipercholesterolemia_rodzinna" title="Hipercholesterolemia rodzinna – Polish" lang="pl" hreflang="pl" data-title="Hipercholesterolemia rodzinna" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Hipercolesterolemia_heredit%C3%A1ria" title="Hipercolesterolemia hereditária – Portuguese" lang="pt" hreflang="pt" data-title="Hipercolesterolemia hereditária" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%A1%D0%B5%D0%BC%D0%B5%D0%B9%D0%BD%D0%B0%D1%8F_%D0%B3%D0%B8%D0%BF%D0%B5%D1%80%D1%85%D0%BE%D0%BB%D0%B5%D1%81%D1%82%D0%B5%D1%80%D0%B8%D0%BD%D0%B5%D0%BC%D0%B8%D1%8F" title="Семейная гиперхолестеринемия – Russian" lang="ru" hreflang="ru" data-title="Семейная гиперхолестеринемия" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%9F%D0%BE%D1%80%D0%BE%D0%B4%D0%B8%D1%87%D0%BD%D0%B0_%D1%85%D0%B8%D0%BF%D0%B5%D1%80%D1%85%D0%BE%D0%BB%D0%B5%D1%81%D1%82%D0%B5%D1%80%D0%BE%D0%BB%D0%B5%D0%BC%D0%B8%D1%98%D0%B0" title="Породична хиперхолестеролемија – Serbian" lang="sr" hreflang="sr" data-title="Породична хиперхолестеролемија" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Familiaalinen_hyperkolesterolemia" title="Familiaalinen hyperkolesterolemia – Finnish" lang="fi" hreflang="fi" data-title="Familiaalinen hyperkolesterolemia" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Familj%C3%A4r_hyperkolesterolemi" title="Familjär hyperkolesterolemi – Swedish" lang="sv" hreflang="sv" data-title="Familjär hyperkolesterolemi" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/%D0%A1%D1%96%D0%BC%D0%B5%D0%B9%D0%BD%D0%B0_%D0%B3%D1%96%D0%BF%D0%B5%D1%80%D1%85%D0%BE%D0%BB%D0%B5%D1%81%D1%82%D0%B5%D1%80%D0%B8%D0%BD%D0%B5%D0%BC%D1%96%D1%8F" title="Сімейна гіперхолестеринемія – Ukrainian" lang="uk" hreflang="uk" data-title="Сімейна гіперхолестеринемія" data-language-autonym="Українська" data-language-local-name="Ukrainian" class="interlanguage-link-target"><span>Українська</span></a></li><li class="interlanguage-link interwiki-zh mw-list-item"><a href="https://zh.wikipedia.org/wiki/%E5%AE%B6%E6%97%8F%E6%80%A7%E9%AB%98%E8%83%86%E5%9B%BA%E9%86%87%E8%A1%80%E7%97%87" title="家族性高胆固醇血症 – Chinese" lang="zh" hreflang="zh" data-title="家族性高胆固醇血症" 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Click here for more information." src="//upload.wikimedia.org/wikipedia/en/thumb/9/94/Symbol_support_vote.svg/19px-Symbol_support_vote.svg.png" decoding="async" width="19" height="20" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/9/94/Symbol_support_vote.svg/29px-Symbol_support_vote.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/9/94/Symbol_support_vote.svg/39px-Symbol_support_vote.svg.png 2x" data-file-width="180" data-file-height="185" /></a></span></div></div> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Genetic disorder characterized by high cholesterol levels</div> <p class="mw-empty-elt"> </p> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Familial hypercholesterolemia</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Familial hypercholesterolaemia</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:Xanthelasma_palpebrarum.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/e/e3/Xanthelasma_palpebrarum.jpg/220px-Xanthelasma_palpebrarum.jpg" decoding="async" width="220" height="146" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/e/e3/Xanthelasma_palpebrarum.jpg/330px-Xanthelasma_palpebrarum.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/e/e3/Xanthelasma_palpebrarum.jpg/440px-Xanthelasma_palpebrarum.jpg 2x" data-file-width="1200" data-file-height="799" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data"><a href="/wiki/Xanthelasma" title="Xanthelasma">Xanthelasma palpebrarum</a>, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH.</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Endocrinology" title="Endocrinology">Endocrinology</a></td></tr></tbody></table> <p><b>Familial hypercholesterolemia</b> (<b>FH</b>) is a <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorder</a> characterized by <a href="/wiki/Hypercholesterolemia" title="Hypercholesterolemia">high cholesterol levels</a>, specifically very high levels of <a href="/wiki/Low-density_lipoprotein_cholesterol" class="mw-redirect" title="Low-density lipoprotein cholesterol">low-density lipoprotein cholesterol</a> (LDL cholesterol), in the blood and early <a href="/wiki/Cardiovascular_diseases" class="mw-redirect" title="Cardiovascular diseases">cardiovascular diseases</a>. The most common mutations diminish the number of functional LDL receptors in the liver or produce abnormal LDL receptors that never go to the cell surface to function properly (abnormal trafficking).<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (January 2021)">citation needed</span></a></i>]</sup> Since the underlying body biochemistry is slightly different in individuals with FH, their high cholesterol levels are less responsive to the kinds of cholesterol control methods which are usually more effective in people without FH (such as dietary modification and <a href="/wiki/Statin" title="Statin">statin</a> tablets). Nevertheless, treatment (including higher statin doses) is usually effective. </p><p>FH is classified as a type 2 familial <a href="/wiki/Dyslipidemia" title="Dyslipidemia">dyslipidemia</a>.<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> There are five types of familial dyslipidemia (not including subtypes), and each are classified from both the altered lipid profile and by the genetic abnormality. For example, high LDL (often due to LDL receptor defect) is type 2. Others include defects in <a href="/wiki/Chylomicron" title="Chylomicron">chylomicron</a> metabolism, <a href="/wiki/Triglyceride" title="Triglyceride">triglyceride</a> metabolism, and metabolism of other cholesterol-containing particles, such as VLDL and IDL. </p><p>About 1 in 100 to 200 people have mutations in the <i>LDLR</i> gene that encodes the <a href="/wiki/LDL_receptor" title="LDL receptor">LDL receptor</a> <a href="/wiki/Protein" title="Protein">protein</a>, which normally removes LDL from circulation, or the <i>APOB</i> gene that encodes <a href="/wiki/Apolipoprotein_B" title="Apolipoprotein B">apolipoprotein B</a> (ApoB), the part of LDL particles that binds with LDL receptors. Mutations in other genes are rare but important to know, including gain-of-function mutations in the <i><a href="/wiki/PCSK9" title="PCSK9">PCSK9</a></i> gene coding for the PCSK9 enzyme (which degrades LDL receptors), resulting in less LDL receptors available. <i>PCSK9</i> mutations cause less than 5% of cases of FH according to most epidemiologic studies.<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> People who have one abnormal copy (are <a href="/wiki/Zygosity" title="Zygosity">heterozygous</a>) of the <i>LDLR</i> gene may develop cardiovascular disease prematurely at the age of 30 to 40. Having two abnormal copies (being <i>homozygous</i>) may cause severe cardiovascular disease in childhood. Heterozygous FH is a common genetic disorder, inherited in an <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> pattern, occurring in 1:250 people in most countries;<sup id="cite_ref-pmid28864697_3-0" class="reference"><a href="#cite_note-pmid28864697-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> homozygous FH is much rarer, occurring in 1 in 300,000 people.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (July 2021)">citation needed</span></a></i>]</sup> </p><p>Heterozygous FH is normally treated with <a href="/wiki/Statins" class="mw-redirect" title="Statins">statins</a>, <a href="/wiki/Bile_acid_sequestrant" title="Bile acid sequestrant">bile acid sequestrants</a>, or other <a href="/wiki/Hypolipidemic_agent" class="mw-redirect" title="Hypolipidemic agent">lipid-lowering agents</a> that lower cholesterol levels. New cases are generally offered <a href="/wiki/Genetic_counseling" title="Genetic counseling">genetic counseling</a>. Homozygous FH often does not respond to medical therapy and may require other treatments, including <a href="/wiki/LDL_apheresis" title="LDL apheresis">LDL apheresis</a> (removal of LDL in a method similar to <a href="/wiki/Kidney_dialysis" title="Kidney dialysis">dialysis</a>) and occasionally <a href="/wiki/Liver_transplantation" title="Liver transplantation">liver transplantation</a>.<sup id="cite_ref-Rader2003_4-0" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Physical_signs">Physical signs</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=2" title="Edit section: Physical signs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>High cholesterol levels normally do not cause any symptoms. Yellow deposits of cholesterol-rich fat may be seen in various places on the body such as around the eyelids (known as <a href="/wiki/Xanthelasma" title="Xanthelasma">xanthelasma palpebrarum</a>), the outer margin of the <a href="/wiki/Iris_(anatomy)" title="Iris (anatomy)">iris</a> (known as <a href="/wiki/Arcus_senilis" title="Arcus senilis">arcus senilis corneae</a>), and in the <a href="/wiki/Tendon" title="Tendon">tendons</a> of the hands, elbows, knees and feet, particularly the <a href="/wiki/Achilles_tendon" title="Achilles tendon">Achilles tendon</a> (known as a <a href="/wiki/Xanthoma" title="Xanthoma">tendon xanthoma</a>).<sup id="cite_ref-Rader2003_4-1" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid15816992_5-0" class="reference"><a href="#cite_note-pmid15816992-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Cardiovascular_disease">Cardiovascular disease</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=3" title="Edit section: Cardiovascular disease"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Accelerated deposition of cholesterol in the walls of <a href="/wiki/Artery" title="Artery">arteries</a> leads to <a href="/wiki/Atherosclerosis" title="Atherosclerosis">atherosclerosis</a>, the underlying cause of cardiovascular disease. The most common problem in FH is the development of <a href="/wiki/Coronary_artery_disease" title="Coronary artery disease">coronary artery disease</a> (atherosclerosis of the <a href="/wiki/Coronary_artery" class="mw-redirect" title="Coronary artery">coronary arteries</a> that supply the <a href="/wiki/Heart" title="Heart">heart</a>) at a much younger age than would be expected in the general population. This may lead to <a href="/wiki/Angina_pectoris" class="mw-redirect" title="Angina pectoris">angina pectoris</a> (chest pain or tightness on exertion) or <a href="/wiki/Heart_attack" class="mw-redirect" title="Heart attack">heart attacks</a>. Less commonly, arteries of the <a href="/wiki/Brain" title="Brain">brain</a> are affected; this may lead to <a href="/wiki/Transient_ischemic_attack" title="Transient ischemic attack">transient ischemic attacks</a> (brief episodes of weakness on one side of the body or inability to talk) or occasionally <a href="/wiki/Stroke" title="Stroke">stroke</a>. <a href="/wiki/Peripheral_artery_occlusive_disease" class="mw-redirect" title="Peripheral artery occlusive disease">Peripheral artery occlusive disease</a> (obstruction of the arteries of the legs) occurs mainly in people with FH who <a href="/wiki/Tobacco_smoking" title="Tobacco smoking">smoke</a>; this can cause pain in the calf muscles during walking that resolves with rest (<a href="/wiki/Intermittent_claudication" title="Intermittent claudication">intermittent claudication</a>) and problems due to a decreased blood supply to the feet (such as <a href="/wiki/Gangrene" title="Gangrene">gangrene</a>).<sup id="cite_ref-Durrington_6-0" class="reference"><a href="#cite_note-Durrington-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> Atherosclerosis risk is increased further with age and in those who smoke, have <a href="/wiki/Diabetes_mellitus" class="mw-redirect" title="Diabetes mellitus">diabetes</a>, <a href="/wiki/Hypertension" title="Hypertension">high blood pressure</a> and a <a href="/wiki/Family_history_(medicine)" title="Family history (medicine)">family history</a> of cardiovascular disease.<sup id="cite_ref-Rader2003_4-2" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid15554949_7-0" class="reference"><a href="#cite_note-pmid15554949-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=4" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <table class="wikitable" style="float:right; width:30em; border:solid 1px #999999; margin:0 0 1em 1em;"> <tbody><tr> <th colspan="6" style="background-color: #CCEEEE;">Criteria for diagnosis of probable heterozygous FH <p>(98% specificity)<sup id="cite_ref-DiagnosingHeFH_8-0" class="reference"><a href="#cite_note-DiagnosingHeFH-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> </th></tr> <tr> <th colspan="2"> </th> <th colspan="2">1st degree relative </th> <th colspan="2">general population </th></tr> <tr> <th>age </th> <th>cholesterol </th> <th>mg/dL </th> <th>mmol/L </th> <th>mg/dL </th> <th>mmol/L </th></tr> <tr> <td rowspan="2">< 18 </td> <td>total </td> <td>> 220 </td> <td>> 5.7 </td> <td>> 270 </td> <td>> 7.0 </td></tr> <tr> <td>LDL-C </td> <td>> 155 </td> <td>> 4.0 </td> <td>> 200 </td> <td>> 5.2 </td></tr> <tr> <td rowspan="2">20–29 </td> <td>total </td> <td>> 240 </td> <td>> 6.2 </td> <td>> 290 </td> <td>> 7.5 </td></tr> <tr> <td>LDL-C </td> <td>> 170 </td> <td>> 4.4 </td> <td>> 220 </td> <td>> 5.7 </td></tr> <tr> <td rowspan="2">30–39 </td> <td>total </td> <td>> 270 </td> <td>> 7.0 </td> <td>> 340 </td> <td>> 8.8 </td></tr> <tr> <td>LDL-C </td> <td>> 190 </td> <td>> 5.0 </td> <td>> 240 </td> <td>> 6.2 </td></tr> <tr> <td rowspan="2">≥ 40 </td> <td>total </td> <td>> 290 </td> <td>> 7.5 </td> <td>> 360 </td> <td>> 9.3 </td></tr> <tr> <td>LDL-C </td> <td>> 205 </td> <td>> 5.3 </td> <td>> 260 </td> <td>> 6.7 </td></tr> <tr> <td colspan="7" style="font-size: 90%;">First-degree relatives are parents, offspring, brothers, and sisters </td></tr> </tbody></table> <p>Approximately 85% of individuals with this disorder have not been diagnosed and consequently are not receiving lipid-lowering treatments.<sup id="cite_ref-Repas2014_9-0" class="reference"><a href="#cite_note-Repas2014-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Physical examination findings can help a physician make the diagnosis of FH. Tendon xanthomas are seen in 20-40% of individuals with FH and are <a href="/wiki/Pathognomonic" title="Pathognomonic">pathognomonic</a> for the condition.<sup id="cite_ref-Repas2014_9-1" class="reference"><a href="#cite_note-Repas2014-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> A xanthelasma or corneal arcus may also be seen. These common signs are supportive of the diagnosis, but are non-specific findings.<sup id="cite_ref-Repas2014_9-2" class="reference"><a href="#cite_note-Repas2014-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Lipid_measurements">Lipid measurements</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=5" title="Edit section: Lipid measurements"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Cholesterol" title="Cholesterol">Cholesterol</a> levels may be determined as part of health screening for <a href="/wiki/Health_insurance" title="Health insurance">health insurance</a> or <a href="/wiki/Occupational_safety_and_health" title="Occupational safety and health">occupational health</a>, when the external physical signs such as xanthelasma, xanthoma, arcus are noticed, symptoms of cardiovascular disease develop, or a family member has been found to have FH. A pattern compatible with <a href="/wiki/Hyperlipoproteinemia_type_II" class="mw-redirect" title="Hyperlipoproteinemia type II">hyperlipoproteinemia type IIa</a> on the <a href="/wiki/Hyperlipidemia#Classification" title="Hyperlipidemia">Fredrickson classification</a> is typically found: raised level of total cholesterol, markedly raised level of low-density lipoprotein (LDL), normal level of <a href="/wiki/High-density_lipoprotein" title="High-density lipoprotein">high-density lipoprotein</a> (HDL), and normal level of <a href="/wiki/Triglyceride" title="Triglyceride">triglycerides</a>. Total cholesterol levels of 350–550 mg/dL are typical of heterozygous FH while total cholesterol levels of 650–1000 mg/dL are typical of homozygous FH.<sup id="cite_ref-Repas2014_9-3" class="reference"><a href="#cite_note-Repas2014-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> The LDL is typically above the 75th <a href="/wiki/Percentile" title="Percentile">percentile</a>, that is, 75% of the healthy population would have a lower LDL level.<sup id="cite_ref-Rader2003_4-3" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Cholesterol levels can be drastically higher in people with FH who are also <a href="/wiki/Obesity" title="Obesity">obese</a>.<sup id="cite_ref-Durrington_6-1" class="reference"><a href="#cite_note-Durrington-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Mutation_analysis">Mutation analysis</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=6" title="Edit section: Mutation analysis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>On the basis of the isolated high LDL and clinical criteria (which differ by country), <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a> for LDL receptor mutations, <a href="/wiki/ApoB" class="mw-redirect" title="ApoB">ApoB</a> mutations and <i>PCSK9</i> can be performed. Mutations are detected in between 50 and 80% of cases; those without a mutation often have higher triglyceride levels and may in fact have other causes for their high cholesterol, such as <a href="/wiki/Combined_hyperlipidemia" title="Combined hyperlipidemia">combined hyperlipidemia</a> due to <a href="/wiki/Metabolic_syndrome" title="Metabolic syndrome">metabolic syndrome</a>.<sup id="cite_ref-pmid16825289_10-0" class="reference"><a href="#cite_note-pmid16825289-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Differential_diagnosis">Differential diagnosis</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=7" title="Edit section: Differential diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>FH needs to be distinguished from <a href="/wiki/Familial_combined_hyperlipidemia" class="mw-redirect" title="Familial combined hyperlipidemia">familial combined hyperlipidemia</a> and <a href="/wiki/Polygenic_hypercholesterolemia" class="mw-redirect" title="Polygenic hypercholesterolemia">polygenic hypercholesterolemia</a>. Lipid levels and the presence of xanthomata can confirm the diagnosis. <a href="/wiki/Sitosterolemia" title="Sitosterolemia">Sitosterolemia</a> and <a href="/wiki/Cerebrotendineous_xanthomatosis" class="mw-redirect" title="Cerebrotendineous xanthomatosis">cerebrotendineous xanthomatosis</a> are two rare conditions that can also present with premature atherosclerosis and xanthomas. Generally, cholesterol measurement will not differentiate patients with FH and sitosterolemia, in which the plant stanol is accumulated instead of animal source cholesterol. The treatment of the condition is highly effective with a class of lipid lowering agent: Ezetimibe. Polygenic hypercholesterolemia can also involve neurological or psychiatric manifestations, <a href="/wiki/Cataracts" class="mw-redirect" title="Cataracts">cataracts</a>, <a href="/wiki/Diarrhea" title="Diarrhea">diarrhea</a> and skeletal abnormalities.<sup id="cite_ref-pmid11939886_11-0" class="reference"><a href="#cite_note-pmid11939886-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> This condition does not have increased blood cholesterol but the accumulation of cholesterol derivative in the tendon can mimic FH. </p> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=8" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The most common genetic defects in FH are <i>LDLR</i> loss of function mutations (<a href="/wiki/Prevalence" title="Prevalence">prevalence</a> 1 in 250, depending on the population),<sup id="cite_ref-pmid28864697_3-1" class="reference"><a href="#cite_note-pmid28864697-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> ApoB loss of function mutations (prevalence 1 in 1000), <i><a href="/wiki/PCSK9" title="PCSK9">PCSK9</a></i> gain of function mutations (less than 1 in 2500) and <i><a href="/wiki/LDLRAP1" class="mw-redirect" title="LDLRAP1">LDLRAP1</a></i>. The related disease <a href="/wiki/Sitosterolemia" title="Sitosterolemia">sitosterolemia</a>, which has many similarities with FH and also features cholesterol accumulation in tissues, is due to <i><a href="/wiki/ABCG5" title="ABCG5">ABCG5</a></i> and <i><a href="/wiki/ABCG8" title="ABCG8">ABCG8</a></i> mutations.<sup id="cite_ref-Rader2003_4-4" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="LDL_receptor">LDL receptor</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=9" title="Edit section: LDL receptor"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:LDLR_pathway.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/d/db/LDLR_pathway.png/220px-LDLR_pathway.png" decoding="async" width="220" height="165" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/db/LDLR_pathway.png/330px-LDLR_pathway.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/db/LDLR_pathway.png/440px-LDLR_pathway.png 2x" data-file-width="960" data-file-height="720" /></a><figcaption>LDLR pathway</figcaption></figure> <figure class="mw-default-size mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Protein_LDLR_PDB_1ajj.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d1/Protein_LDLR_PDB_1ajj.png/220px-Protein_LDLR_PDB_1ajj.png" decoding="async" width="220" height="169" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d1/Protein_LDLR_PDB_1ajj.png/330px-Protein_LDLR_PDB_1ajj.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d1/Protein_LDLR_PDB_1ajj.png/440px-Protein_LDLR_PDB_1ajj.png 2x" data-file-width="814" data-file-height="627" /></a><figcaption>Schematic representation of the LDL receptor protein.</figcaption></figure> <p>The <a href="/wiki/LDL_receptor" title="LDL receptor">LDL receptor</a> <a href="/wiki/Gene" title="Gene">gene</a> is located on the short arm of <a href="/wiki/Chromosome_19_(human)" class="mw-redirect" title="Chromosome 19 (human)">chromosome 19</a> (19p13.1-13.3).<sup id="cite_ref-Repas2014_9-4" class="reference"><a href="#cite_note-Repas2014-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> It comprises 18 <a href="/wiki/Exon" title="Exon">exons</a> and spans 45 <a href="/wiki/Base_pair#Length_measurements" title="Base pair">kb</a>, and the protein gene product contains 839 <a href="/wiki/Amino_acid" title="Amino acid">amino acids</a> in mature form. A single abnormal copy (heterozygote) of FH causes cardiovascular disease by the age of 50 in about 40% of cases. Having two abnormal copies (homozygote) causes accelerated atherosclerosis in childhood, including its complications. The plasma LDL levels are inversely related to the activity of LDL receptor (LDLR). Homozygotes have LDLR activity of less than 2%, while heterozygotes have defective LDL processing with receptor activity being 2–25%, depending on the nature of the mutation. Over 1000 different mutations are known.<sup id="cite_ref-Rader2003_4-5" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>There are five major classes of FH due to <i>LDLR</i> mutations:<sup id="cite_ref-Hobbs1992_12-0" class="reference"><a href="#cite_note-Hobbs1992-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <ul><li>Class I: LDLR is not synthesized at all.</li> <li>Class II: LDLR is not properly transported from the <a href="/wiki/Endoplasmic_reticulum" title="Endoplasmic reticulum">endoplasmic reticulum</a> to the <a href="/wiki/Golgi_apparatus" title="Golgi apparatus">Golgi apparatus</a> for expression on the cell surface.</li> <li>Class III: LDLR does not properly bind LDL on the cell surface because of a defect in either apolipoprotein B100 (R3500Q) or in LDL-R.</li> <li>Class IV: LDLR bound to LDL does not properly cluster in <a href="/wiki/Clathrin" title="Clathrin">clathrin</a>-coated pits for <a href="/wiki/Receptor-mediated_endocytosis" title="Receptor-mediated endocytosis">receptor-mediated endocytosis</a> (pathway step 2).</li> <li>Class V: LDLR is not recycled back to the cell surface (pathway step 5).</li></ul> <div class="mw-heading mw-heading3"><h3 id="Apolipoprotein_B">Apolipoprotein B</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=10" title="Edit section: Apolipoprotein B"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Apolipoprotein_B" title="Apolipoprotein B">Apolipoprotein B</a>, in its ApoB100 form, is the main <a href="/wiki/Apolipoprotein" title="Apolipoprotein">apolipoprotein</a>, or protein part of the lipoprotein particle. Its gene is located on the <a href="/wiki/Chromosome_2_(human)" class="mw-redirect" title="Chromosome 2 (human)">second chromosome</a> (2p24-p23) and is 46.2 <a href="/wiki/Kilobase" class="mw-redirect" title="Kilobase">kb</a> long. FH is often associated with the mutation of R3500Q, which causes replacement of <a href="/wiki/Arginine" title="Arginine">arginine</a> by <a href="/wiki/Glutamine" title="Glutamine">glutamine</a> at position 3500. The mutation is located on a part of the protein that normally binds with the LDL receptor, and binding is reduced as a result of the mutation. Like <i>LDLR</i>, the number of abnormal copies determines the severity of the hypercholesterolemia.<sup id="cite_ref-Rader2003_4-6" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Grundy1986_13-0" class="reference"><a href="#cite_note-Grundy1986-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="PCSK9">PCSK9</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=11" title="Edit section: PCSK9"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Mutations in the <a href="/wiki/PCSK9" title="PCSK9">proprotein convertase subtilisin/kexin type 9</a> (<i>PCSK9</i>) gene were linked to <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> (i.e. requiring only one abnormal copy) FH in a 2003 report.<sup id="cite_ref-Rader2003_4-7" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> The gene is located on the <a href="/wiki/Chromosome_1_(human)" class="mw-redirect" title="Chromosome 1 (human)">first chromosome</a> (1p34.1-p32) and encodes a 666 amino acid protein that is expressed in the liver. It has been suggested that PCSK9 causes FH mainly by reducing the number of LDL receptors on liver cells.<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="LDLRAP1">LDLRAP1</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=12" title="Edit section: LDLRAP1"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Abnormalities in the <i>ARH</i> gene, also known as <i><a href="/wiki/LDLRAP1" class="mw-redirect" title="LDLRAP1">LDLRAP1</a></i>, were first reported in a family in 1973.<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> In contrast to the other causes, two abnormal copies of the gene are required for FH to develop (autosomal recessive). The mutations in the protein tend to cause the production of a shortened protein. Its real function is unclear, but it seems to play a role in the relation between the LDL receptor and clathrin-coated pits. People with autosomal recessive hypercholesterolemia tend to have more severe disease than <i>LDLR</i>-heterozygotes but less severe than <i>LDLR</i>-homozygotes.<sup id="cite_ref-Rader2003_4-8" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Pathophysiology">Pathophysiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=13" title="Edit section: Pathophysiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:HMG-CoA_reductase_pathway.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/1/17/HMG-CoA_reductase_pathway.svg/220px-HMG-CoA_reductase_pathway.svg.png" decoding="async" width="220" height="401" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/17/HMG-CoA_reductase_pathway.svg/330px-HMG-CoA_reductase_pathway.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/17/HMG-CoA_reductase_pathway.svg/440px-HMG-CoA_reductase_pathway.svg.png 2x" data-file-width="500" data-file-height="911" /></a><figcaption>Cholesterol is synthesized in the <a href="/wiki/HMG-CoA_reductase_pathway" class="mw-redirect" title="HMG-CoA reductase pathway">HMG-CoA reductase pathway</a>.</figcaption></figure> <style data-mw-deduplicate="TemplateStyles:r1236090951">.mw-parser-output .hatnote{font-style:italic}.mw-parser-output div.hatnote{padding-left:1.6em;margin-bottom:0.5em}.mw-parser-output .hatnote i{font-style:normal}.mw-parser-output .hatnote+link+.hatnote{margin-top:-0.5em}@media print{body.ns-0 .mw-parser-output .hatnote{display:none!important}}</style><div role="note" class="hatnote navigation-not-searchable">Main articles: <a href="/wiki/LDL_receptor" title="LDL receptor">LDL receptor</a> and <a href="/wiki/Atherosclerosis" title="Atherosclerosis">atherosclerosis</a></div> <p>LDL cholesterol normally circulates in the body for 2.5 days, and subsequently the <a href="/wiki/Apolipoprotein_B" title="Apolipoprotein B">apolipoprotein B</a> portion of LDL cholesterol binds to the LDL receptor on the <a href="/wiki/Hepatocyte" title="Hepatocyte">liver cells</a>, triggering its <a href="/wiki/Endocytosis" title="Endocytosis">uptake and digestion</a>.<sup id="cite_ref-Repas2014_9-5" class="reference"><a href="#cite_note-Repas2014-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> This process results in the removal of LDL from the circulatory system. Synthesis of <a href="/wiki/Cholesterol" title="Cholesterol">cholesterol</a> by the liver is suppressed in the <a href="/wiki/Mevalonate_pathway" title="Mevalonate pathway">HMG-CoA reductase pathway</a>.<sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> In FH, LDL receptor function is reduced or absent,<sup id="cite_ref-Repas2014_9-6" class="reference"><a href="#cite_note-Repas2014-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> and LDL circulates for an average duration of 4.5 days, resulting in significantly increased level of LDL cholesterol in the blood with normal levels of other lipoproteins.<sup id="cite_ref-Durrington_6-2" class="reference"><a href="#cite_note-Durrington-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> In mutations of <i>ApoB</i>, reduced binding of LDL particles to the receptor causes the increased level of LDL cholesterol. It is not known how the mutation causes LDL receptor dysfunction in mutations of <i>PCSK9</i> and <i>ARH</i>.<sup id="cite_ref-Rader2003_4-9" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>Although atherosclerosis occurs to a certain degree in all people, people with FH may develop accelerated atherosclerosis due to the excess level of LDL. The degree of atherosclerosis approximately depends on the <i>number</i> of LDL receptors still expressed and the <i>functionality</i> of these receptors. In many heterozygous forms of FH, the receptor function is only mildly impaired, and LDL levels will remain relatively low. In the more serious homozygous forms, the receptor is not expressed at all.<sup id="cite_ref-Rader2003_4-10" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>Some studies of FH <a href="/wiki/Cohort_study" title="Cohort study">cohorts</a> suggest that additional risk factors are generally at play when a person develops atherosclerosis.<sup id="cite_ref-Broome1993_18-0" class="reference"><a href="#cite_note-Broome1993-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Sijbrands2001_19-0" class="reference"><a href="#cite_note-Sijbrands2001-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> In addition to the classic risk factors such as smoking, high blood pressure, and diabetes, genetic studies have shown that a common abnormality in the <a href="/wiki/Prothrombin" class="mw-redirect" title="Prothrombin">prothrombin</a> gene (G20210A) increases the risk of cardiovascular events in people with FH.<sup id="cite_ref-pmid15879303_20-0" class="reference"><a href="#cite_note-pmid15879303-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> Several studies found that a high level of <a href="/wiki/Lipoprotein(a)" title="Lipoprotein(a)">lipoprotein(a)</a> was an additional risk factor for ischemic heart disease.<sup id="cite_ref-pmid1971660_21-0" class="reference"><a href="#cite_note-pmid1971660-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid2139920_22-0" class="reference"><a href="#cite_note-pmid2139920-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> The risk was also found to be higher in people with a specific <a href="/wiki/Genotype" title="Genotype">genotype</a> of the <a href="/wiki/Angiotensin-converting_enzyme" title="Angiotensin-converting enzyme">angiotensin-converting enzyme</a> (ACE).<sup id="cite_ref-pmid9603531_23-0" class="reference"><a href="#cite_note-pmid9603531-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Screening">Screening</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=14" title="Edit section: Screening"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Cholesterol screening and genetic testing among family members of people with known FH is <a href="/wiki/Cost-effective" class="mw-redirect" title="Cost-effective">cost-effective</a>.<sup id="cite_ref-24" class="reference"><a href="#cite_note-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> Other strategies such as <a href="/wiki/Universal_screening" class="mw-redirect" title="Universal screening">universal screening</a> at the age of 16 were suggested in 2001.<sup id="cite_ref-BMJ-screening_25-0" class="reference"><a href="#cite_note-BMJ-screening-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid11213091_26-0" class="reference"><a href="#cite_note-pmid11213091-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> The latter approach may however be less cost-effective in the short term.<sup id="cite_ref-pmid12669918_27-0" class="reference"><a href="#cite_note-pmid12669918-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> Screening at an age lower than 16 was thought likely to lead to an unacceptably high rate of <a href="/wiki/Type_I_and_type_II_errors" title="Type I and type II errors">false positives</a>.<sup id="cite_ref-Durrington_6-3" class="reference"><a href="#cite_note-Durrington-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p><p>A 2007 <a href="/wiki/Meta-analysis" title="Meta-analysis">meta-analysis</a> found that "the proposed strategy of screening children and parents for familial hypercholesterolaemia could have considerable impact in preventing the medical consequences of this disorder in two generations simultaneously."<sup id="cite_ref-:0_28-0" class="reference"><a href="#cite_note-:0-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> "The use of total cholesterol alone may best discriminate between people with and without FH between the ages of 1 to 9 years."<sup id="cite_ref-29" class="reference"><a href="#cite_note-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:0_28-1" class="reference"><a href="#cite_note-:0-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> </p><p>Screening of toddlers has been suggested, and results of a trial on 10,000 one-year-olds were published in 2016. Work was needed to find whether screening was cost-effective, and acceptable to families.<sup id="cite_ref-30" class="reference"><a href="#cite_note-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-WaldBestwick2016_31-0" class="reference"><a href="#cite_note-WaldBestwick2016-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> Genetic counseling can help assist in genetic testing following a positive cholesterol screen for FH.<sup id="cite_ref-32" class="reference"><a href="#cite_note-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=15" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Heterozygous_FH">Heterozygous FH</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=16" title="Edit section: Heterozygous FH"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Heterozygous familial hypercholesterolemia (HeFH) is usually treated with <a href="/wiki/Statin" title="Statin">statins</a>.<sup id="cite_ref-Repas2014_9-7" class="reference"><a href="#cite_note-Repas2014-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Statins act by inhibiting the enzyme <a href="/wiki/HMG-CoA_reductase" title="HMG-CoA reductase">hydroxymethylglutaryl CoA reductase</a> (HMG-CoA-reductase) in the liver. In response, the liver produces more LDL receptors, which remove circulating LDL from the blood. Statins effectively lower cholesterol and LDL levels, although sometimes add-on therapy with other drugs is required, such as <a href="/wiki/Bile_acid_sequestrant" title="Bile acid sequestrant">bile acid sequestrants</a> (<a href="/wiki/Cholestyramine" class="mw-redirect" title="Cholestyramine">cholestyramine</a> or <a href="/wiki/Colestipol" title="Colestipol">colestipol</a>), <a href="/wiki/Nicotinic_acid" class="mw-redirect" title="Nicotinic acid">nicotinic acid</a> preparations or fibrates.<sup id="cite_ref-33" class="reference"><a href="#cite_note-33"><span class="cite-bracket">[</span>33<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Rader2003_4-11" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Control of other risk factors for cardiovascular disease is required, as risk remains somewhat elevated even when cholesterol levels are controlled. Professional guidelines recommend that the decision to treat a person with FH with statins should not be based on the usual risk prediction tools (such as those derived from the <a href="/wiki/Framingham_Heart_Study" title="Framingham Heart Study">Framingham Heart Study</a>), as they are likely to underestimate the risk of cardiovascular disease; unlike the rest of the population, FH have had high levels of cholesterol since birth, probably increasing their relative risk.<sup id="cite_ref-NICE_34-0" class="reference"><a href="#cite_note-NICE-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> Prior to the introduction of the statins, <a href="/wiki/Clofibrate" title="Clofibrate">clofibrate</a> (an older fibrate that often caused <a href="/wiki/Gallstone" title="Gallstone">gallstones</a>), <a href="/wiki/Probucol" title="Probucol">probucol</a> (especially in large xanthomas) and <a href="/wiki/Thyroxine" class="mw-redirect" title="Thyroxine">thyroxine</a> were used to reduce LDL cholesterol levels. </p><p>More controversial is the addition of <a href="/wiki/Ezetimibe" title="Ezetimibe">ezetimibe</a>, which inhibits cholesterol absorption in the gut. While it reduces LDL cholesterol, it does not appear to improve a marker of atherosclerosis called the <a href="/wiki/Intima-media_thickness" class="mw-redirect" title="Intima-media thickness">intima-media thickness</a>. Whether this means that ezetimibe is of no overall benefit in FH is unknown.<sup id="cite_ref-35" class="reference"><a href="#cite_note-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> </p><p>There are no interventional studies that directly show mortality benefit of cholesterol lowering in FH. Rather, evidence of benefit is derived from a number of trials conducted in people who have polygenic hypercholesterolemia (in which heredity plays a smaller role). Still, a 1999 observational study of a large British registry showed that mortality in people with FH had started to improve in the early 1990s when statins were introduced.<sup id="cite_ref-36" class="reference"><a href="#cite_note-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> </p><p>A <a href="/wiki/Cohort_study" title="Cohort study">cohort study</a> suggested that treatment of FH with statins leads to a 48% reduction in death from coronary heart disease to a point where people are no more likely to die of coronary heart disease than the general population. However, if the person already had coronary heart disease the reduction was 25%. The results emphasize the importance of early identification of FH and treatment with statins.<sup id="cite_ref-37" class="reference"><a href="#cite_note-37"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Alirocumab" title="Alirocumab">Alirocumab</a> and <a href="/wiki/Evolocumab" title="Evolocumab">evolocumab</a>, both monoclonal antibodies against <a href="/wiki/PCSK9" title="PCSK9">PCSK9</a>, are specifically indicated as adjunct to diet and maximally tolerated statin therapy for the treatment of adults with heterozygous familial hypercholesterolemia, who require additional lowering of LDL cholesterol.<sup id="cite_ref-38" class="reference"><a href="#cite_note-38"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup> </p><p>More recently <a href="/wiki/Inclisiran" title="Inclisiran">Inclisiran</a> has been approved for the treatment of HeFH </p><p>Although monoclonal antibodies against PCSK9 is highly effective for patients with FH, the parenteral administration makes it less acceptable by the patient. There are many oral PCSK9 studied in the clinical trials (phase 2 and phase 3) and will be soon adopted as the treatment of hypercholesterolemia. </p> <div class="mw-heading mw-heading3"><h3 id="Homozygous_FH">Homozygous FH</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=17" title="Edit section: Homozygous FH"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Homozygous familial hypercholesterolemia (HoFH) is harder to treat. The LDL (Low Density Lipoprotein) receptors are minimally functional, if at all. Only high doses of statins, often in combination with other medications, are modestly effective in improving lipid levels.<sup id="cite_ref-39" class="reference"><a href="#cite_note-39"><span class="cite-bracket">[</span>39<span class="cite-bracket">]</span></a></sup> If medical therapy is not successful at reducing cholesterol levels, <a href="/wiki/LDL_apheresis" title="LDL apheresis">LDL apheresis</a> may be used; this filters LDL from the bloodstream in a process reminiscent of <a href="/wiki/Kidney_dialysis" title="Kidney dialysis">dialysis</a>.<sup id="cite_ref-Rader2003_4-12" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Very severe cases may be considered for a <a href="/wiki/Liver_transplant" class="mw-redirect" title="Liver transplant">liver transplant</a>; this provides a liver with normally functional LDL receptors, and leads to rapid improvement of the cholesterol levels, but at the risk of complications from any solid <a href="/wiki/Organ_transplant" class="mw-redirect" title="Organ transplant">organ transplant</a> (such as <a href="/wiki/Transplant_rejection" title="Transplant rejection">rejection</a>, <a href="/wiki/Infection" title="Infection">infections</a>, or <a href="/wiki/Adverse_effect_(medicine)" class="mw-redirect" title="Adverse effect (medicine)">side-effects</a> of the medication required to suppress rejection).<sup id="cite_ref-40" class="reference"><a href="#cite_note-40"><span class="cite-bracket">[</span>40<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-41" class="reference"><a href="#cite_note-41"><span class="cite-bracket">[</span>41<span class="cite-bracket">]</span></a></sup> Other surgical techniques include <a href="/wiki/Partial_ileal_bypass_surgery" title="Partial ileal bypass surgery">partial ileal bypass surgery</a>, in which part of the <a href="/wiki/Small_bowel" class="mw-redirect" title="Small bowel">small bowel</a> is bypassed to decrease the absorption of nutrients and hence cholesterol, and <a href="/wiki/Portacaval_shunt" title="Portacaval shunt">portacaval shunt surgery</a>, in which the <a href="/wiki/Portal_vein" title="Portal vein">portal vein</a> is connected to the <a href="/wiki/Vena_cava" class="mw-redirect" title="Vena cava">vena cava</a> to allow blood with nutrients from the intestine to bypass the liver.<sup id="cite_ref-pmid10770402_42-0" class="reference"><a href="#cite_note-pmid10770402-42"><span class="cite-bracket">[</span>42<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid9625405_43-0" class="reference"><a href="#cite_note-pmid9625405-43"><span class="cite-bracket">[</span>43<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid172531_44-0" class="reference"><a href="#cite_note-pmid172531-44"><span class="cite-bracket">[</span>44<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Lomitapide" title="Lomitapide">Lomitapide</a>, an inhibitor of the <a href="/wiki/Microsomal_triglyceride_transfer_protein" title="Microsomal triglyceride transfer protein">microsomal triglyceride transfer protein</a>,<sup id="cite_ref-pmid17215532_45-0" class="reference"><a href="#cite_note-pmid17215532-45"><span class="cite-bracket">[</span>45<span class="cite-bracket">]</span></a></sup> was approved by the US FDA in December 2012 as an orphan drug for the treatment of homozygous familial hypercholesterolemia.<sup id="cite_ref-46" class="reference"><a href="#cite_note-46"><span class="cite-bracket">[</span>46<span class="cite-bracket">]</span></a></sup> In January 2013, The US FDA also approved <a href="/wiki/Mipomersen" title="Mipomersen">mipomersen</a>, which inhibits the action of the gene <a href="/wiki/Apolipoprotein_B" title="Apolipoprotein B">apolipoprotein B</a>, for the treatment of homozygous familial hypercholesterolemia.<sup id="cite_ref-47" class="reference"><a href="#cite_note-47"><span class="cite-bracket">[</span>47<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-48" class="reference"><a href="#cite_note-48"><span class="cite-bracket">[</span>48<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-49" class="reference"><a href="#cite_note-49"><span class="cite-bracket">[</span>49<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Gene_therapy" title="Gene therapy">Gene therapy</a> is a possible future alternative.<sup id="cite_ref-pmid7584986_50-0" class="reference"><a href="#cite_note-pmid7584986-50"><span class="cite-bracket">[</span>50<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Evinacumab" title="Evinacumab">Evinacumab</a>, a monoclonal antibody inhibiting <a href="/wiki/ANGPTL3" title="ANGPTL3">angiopoietin-like protein 3</a>, was approved in 2021 for <a href="/wiki/Adjuvant_therapy" title="Adjuvant therapy">adjunct therapy</a>.<sup id="cite_ref-51" class="reference"><a href="#cite_note-51"><span class="cite-bracket">[</span>51<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Children">Children</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=18" title="Edit section: Children"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Given that FH is present from birth and atherosclerotic changes may begin early in life,<sup id="cite_ref-pmid2914343_52-0" class="reference"><a href="#cite_note-pmid2914343-52"><span class="cite-bracket">[</span>52<span class="cite-bracket">]</span></a></sup> it is sometimes necessary to treat adolescents or even teenagers with agents that were originally developed for adults. Due to safety concerns, many physicians prefer to use <a href="/wiki/Bile_acid_sequestrants" class="mw-redirect" title="Bile acid sequestrants">bile acid sequestrants</a> and <a href="/wiki/Fenofibrate" title="Fenofibrate">fenofibrate</a> as these are licensed in children.<sup id="cite_ref-Greene_53-0" class="reference"><a href="#cite_note-Greene-53"><span class="cite-bracket">[</span>53<span class="cite-bracket">]</span></a></sup> Nevertheless, statins seem safe and effective,<sup id="cite_ref-54" class="reference"><a href="#cite_note-54"><span class="cite-bracket">[</span>54<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid15265847_55-0" class="reference"><a href="#cite_note-pmid15265847-55"><span class="cite-bracket">[</span>55<span class="cite-bracket">]</span></a></sup> and in older children may be used as in adults.<sup id="cite_ref-Durrington_6-4" class="reference"><a href="#cite_note-Durrington-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Greene_53-1" class="reference"><a href="#cite_note-Greene-53"><span class="cite-bracket">[</span>53<span class="cite-bracket">]</span></a></sup> </p><p>An expert panel in 2006 advised on early combination therapy with LDL apheresis, statins, and cholesterol absorption inhibitors in children with homozygous FH at the highest risk.<sup id="cite_ref-pmid17130340_56-0" class="reference"><a href="#cite_note-pmid17130340-56"><span class="cite-bracket">[</span>56<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=19" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The global prevalence of FH is approximately 10 million people.<sup id="cite_ref-Repas2014_9-8" class="reference"><a href="#cite_note-Repas2014-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> In most populations studied, heterozygous FH occurs in about 1:250 people, but not all develop symptoms.<sup id="cite_ref-pmid28864697_3-2" class="reference"><a href="#cite_note-pmid28864697-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Homozygous FH occurs in about 1:1,000,000.<sup id="cite_ref-Rader2003_4-13" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Durrington_6-5" class="reference"><a href="#cite_note-Durrington-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p><p><i>LDLR</i> mutations are more common in certain populations, presumably because of a genetic phenomenon known as the <i><a href="/wiki/Founder_effect" title="Founder effect">founder effect</a></i>—they were founded by a small group of individuals, one or several of whom was a carrier of the mutation. The <a href="/wiki/Afrikaner" class="mw-redirect" title="Afrikaner">Afrikaner</a>, <a href="/wiki/French_Canadian" class="mw-redirect" title="French Canadian">French Canadians</a>, <a href="/wiki/Lebanon" title="Lebanon">Lebanese</a> <a href="/wiki/Christians" title="Christians">Christians</a>, and <a href="/wiki/Finns" title="Finns">Finns</a> have high rates of specific mutations that make FH particularly common in these groups. <i>APOB</i> mutations are more common in Central Europe.<sup id="cite_ref-Rader2003_4-14" class="reference"><a href="#cite_note-Rader2003-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=20" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The Norwegian physician Dr Carl Müller first associated the physical signs, high cholesterol levels and autosomal dominant inheritance in 1938.<sup id="cite_ref-57" class="reference"><a href="#cite_note-57"><span class="cite-bracket">[</span>57<span class="cite-bracket">]</span></a></sup> In the early 1970s and 1980s, the genetic cause for FH was described by Dr <a href="/wiki/Joseph_L._Goldstein" title="Joseph L. Goldstein">Joseph L. Goldstein</a> and Dr <a href="/wiki/Michael_S._Brown" class="mw-redirect" title="Michael S. Brown">Michael S. Brown</a> of Dallas, Texas. Initially, they found increased activity of HMG-CoA reductase, but studies showed that this did not explain the very abnormal cholesterol levels in people with FH.<sup id="cite_ref-58" class="reference"><a href="#cite_note-58"><span class="cite-bracket">[</span>58<span class="cite-bracket">]</span></a></sup> The focus shifted to the binding of LDL to its receptor, and effects of impaired binding on metabolism; this proved to be the underlying mechanism for FH.<sup id="cite_ref-59" class="reference"><a href="#cite_note-59"><span class="cite-bracket">[</span>59<span class="cite-bracket">]</span></a></sup> Subsequently, numerous mutations in the protein were directly identified by sequencing.<sup id="cite_ref-Hobbs1992_12-1" class="reference"><a href="#cite_note-Hobbs1992-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> They later won the 1985 <a href="/wiki/Nobel_Prize_in_Physiology_or_Medicine" title="Nobel Prize in Physiology or Medicine">Nobel Prize in Medicine</a> for their discovery of the <a href="/wiki/LDL_receptor" title="LDL receptor">LDL receptor</a> and its impact on lipoprotein metabolism.<sup id="cite_ref-60" class="reference"><a href="#cite_note-60"><span class="cite-bracket">[</span>60<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=21" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Primary_hyperlipoproteinemia" class="mw-redirect" title="Primary hyperlipoproteinemia">Primary hyperlipoproteinemia</a></li> <li><a href="/wiki/Familial_hypertriglyceridemia" title="Familial hypertriglyceridemia">Familial hypertriglyceridemia</a></li> <li><a href="/wiki/Lipoprotein_lipase_deficiency" title="Lipoprotein lipase deficiency">Lipoprotein lipase deficiency</a></li> <li><a href="/wiki/Familial_apoprotein_CII_deficiency" class="mw-redirect" title="Familial apoprotein CII deficiency">Familial apoprotein CII deficiency</a></li> <li><a href="/wiki/Akira_Endo_(biochemist)" title="Akira Endo (biochemist)">Akira Endo</a>, discoverer of the first statin</li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=22" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output 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.citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output 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"Receptor-mediated control of cholesterol metabolism". <i>Science</i>. <b>191</b> (4223): 150–4. <a href="/wiki/Bibcode_(identifier)" class="mw-redirect" title="Bibcode (identifier)">Bibcode</a>:<a rel="nofollow" class="external text" href="https://ui.adsabs.harvard.edu/abs/1976Sci...191..150B">1976Sci...191..150B</a>. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1126%2Fscience.174194">10.1126/science.174194</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/174194">174194</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Science&rft.atitle=Receptor-mediated+control+of+cholesterol+metabolism&rft.volume=191&rft.issue=4223&rft.pages=150-4&rft.date=1976-01&rft_id=info%3Apmid%2F174194&rft_id=info%3Adoi%2F10.1126%2Fscience.174194&rft_id=info%3Abibcode%2F1976Sci...191..150B&rft.aulast=Brown&rft.aufirst=MS&rft.au=Goldstein%2C+JL&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFamilial+hypercholesterolemia" class="Z3988"></span></span> </li> <li id="cite_note-60"><span class="mw-cite-backlink"><b><a href="#cite_ref-60">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFNobelprize.org" class="citation web cs1">Nobelprize.org. <a rel="nofollow" class="external text" href="http://nobelprize.org/nobel_prizes/medicine/laureates/1985">"Medicine 1985"</a><span class="reference-accessdate">. Retrieved <span class="nowrap">2008-02-28</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=Medicine+1985&rft.au=Nobelprize.org&rft_id=http%3A%2F%2Fnobelprize.org%2Fnobel_prizes%2Fmedicine%2Flaureates%2F1985&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFamilial+hypercholesterolemia" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypercholesterolemia&action=edit&section=23" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a rel="nofollow" class="external text" href="http://www.medicineplus.gov/ency/article/000392.htm">MedicinePlus: Familial Hypercholesterolemia</a><sup class="noprint Inline-Template"><span style="white-space: nowrap;">[<i><a href="/wiki/Wikipedia:Link_rot" title="Wikipedia:Link rot"><span title=" Dead link tagged November 2023">permanent dead link</span></a></i><span style="visibility:hidden; color:transparent; padding-left:2px">‍</span>]</span></sup></li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output .navbox-inner,.mw-parser-output .navbox-subgroup{width:100%}.mw-parser-output .navbox-group,.mw-parser-output .navbox-title,.mw-parser-output .navbox-abovebelow{padding:0.25em 1em;line-height:1.5em;text-align:center}.mw-parser-output .navbox-group{white-space:nowrap;text-align:right}.mw-parser-output .navbox,.mw-parser-output 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dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q2711291" class="extiw" title="d:Q2711291">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/E78.0">E78.0</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10-CM" title="ICD-10-CM">10-CM</a></b>: <a rel="nofollow" class="external text" href="https://icd10cmtool.cdc.gov/?fy=FY2024&query=E78.01">E78.01</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=272.0">272.0</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/143890">143890</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D006938">D006938</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb4707.htm">4707</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/000392.htm">000392</a></li><li><b><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/med/1072-overview">med/1072</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Inborn_error_of_lipid_metabolism:_dyslipidemia" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Lipid_metabolism_disorders" title="Template:Lipid metabolism disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Lipid_metabolism_disorders" title="Template talk:Lipid metabolism disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Lipid_metabolism_disorders" title="Special:EditPage/Template:Lipid metabolism disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Inborn_error_of_lipid_metabolism:_dyslipidemia" style="font-size:114%;margin:0 4em"><a href="/wiki/Inborn_error_of_metabolism" class="mw-redirect" title="Inborn error of metabolism">Inborn error</a> of <a href="/wiki/Inborn_error_of_lipid_metabolism" title="Inborn error of lipid metabolism">lipid metabolism</a>: <a href="/wiki/Dyslipidemia" title="Dyslipidemia">dyslipidemia</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hyperlipidemia" title="Hyperlipidemia">Hyperlipidemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypercholesterolemia" title="Hypercholesterolemia">Hypercholesterolemia</a>/<a href="/wiki/Hypertriglyceridemia" title="Hypertriglyceridemia">Hypertriglyceridemia</a> <ul><li><a href="/wiki/Lipoprotein_lipase_deficiency" title="Lipoprotein lipase deficiency">Lipoprotein lipase deficiency/Type Ia</a></li> <li><a href="/wiki/Familial_apoprotein_CII_deficiency" class="mw-redirect" title="Familial apoprotein CII deficiency">Familial apoprotein CII deficiency/Type Ib</a></li> <li><a class="mw-selflink selflink">Familial hypercholesterolemia/Type IIa</a></li> <li><a href="/wiki/Combined_hyperlipidemia" title="Combined hyperlipidemia">Combined hyperlipidemia/Type IIb</a></li> <li><a href="/wiki/Familial_dysbetalipoproteinemia" title="Familial dysbetalipoproteinemia">Familial dysbetalipoproteinemia/Type III</a></li> <li><a href="/wiki/Familial_hypertriglyceridemia" title="Familial hypertriglyceridemia">Familial hypertriglyceridemia/Type IV</a></li></ul></li> <li><a href="/wiki/Xanthoma" title="Xanthoma">Xanthoma/Xanthomatosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hypolipoproteinemia" title="Hypolipoproteinemia">Hypolipoproteinemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hypoalphalipoproteinemia" title="Hypoalphalipoproteinemia">Hypoalphalipoproteinemia/HDL</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lecithin_cholesterol_acyltransferase_deficiency" title="Lecithin cholesterol acyltransferase deficiency">Lecithin cholesterol acyltransferase deficiency</a></li> <li><a href="/wiki/Tangier_disease" title="Tangier disease">Tangier disease</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hypobetalipoproteinemia" title="Hypobetalipoproteinemia">Hypobetalipoproteinemia/LDL</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Abetalipoproteinemia" title="Abetalipoproteinemia">Abetalipoproteinemia</a></li> <li><a href="/wiki/Apolipoprotein_B_deficiency" title="Apolipoprotein B deficiency">Apolipoprotein B deficiency</a></li> <li><a href="/wiki/Chylomicron_retention_disease" title="Chylomicron retention disease">Chylomicron retention disease</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lipodystrophy" title="Lipodystrophy">Lipodystrophy</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Barraquer%E2%80%93Simons_syndrome" title="Barraquer–Simons syndrome">Barraquer–Simons syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lipomatosis" title="Lipomatosis">Lipomatosis</a></li> <li><a href="/wiki/Adiposis_dolorosa" title="Adiposis dolorosa">Adiposis dolorosa</a></li> <li><a href="/wiki/Urbach%E2%80%93Wiethe_disease" title="Urbach–Wiethe disease">Lipoid proteinosis</a></li> <li><a href="/wiki/Familial_renal_amyloidosis" title="Familial renal amyloidosis">APOA1 familial renal amyloidosis</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Cell_surface_receptor_deficiencies" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Cell_surface_receptor_deficiencies" title="Template:Cell surface receptor deficiencies"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Cell_surface_receptor_deficiencies" title="Template talk:Cell surface receptor deficiencies"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Cell_surface_receptor_deficiencies" title="Special:EditPage/Template:Cell surface receptor deficiencies"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cell_surface_receptor_deficiencies" style="font-size:114%;margin:0 4em"><a href="/wiki/Cell_surface_receptor" title="Cell surface receptor">Cell surface receptor</a> deficiencies</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/G_protein-coupled_receptor" title="G protein-coupled receptor">G protein-coupled receptor</a><br />(including <a href="/wiki/Hormone_receptor" title="Hormone receptor">hormone</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Class A</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Thyrotropin_receptor" title="Thyrotropin receptor">TSHR</a></i> (<a href="/wiki/Congenital_hypothyroidism" title="Congenital hypothyroidism">Congenital hypothyroidism 1</a>)</li> <li><i><a href="/wiki/Luteinizing_hormone/choriogonadotropin_receptor" title="Luteinizing hormone/choriogonadotropin receptor">LHCGR</a></i> (<a href="/wiki/Luteinizing_hormone_insensitivity" class="mw-redirect" title="Luteinizing hormone insensitivity">Luteinizing hormone insensitivity</a>, <a href="/wiki/Leydig_cell_hypoplasia" title="Leydig cell hypoplasia">Leydig cell hypoplasia</a>, <a href="/wiki/Male-limited_precocious_puberty" class="mw-redirect" title="Male-limited precocious puberty">Male-limited precocious puberty</a>)</li> <li><i><a href="/wiki/FSH-receptor" class="mw-redirect" title="FSH-receptor">FSHR</a></i> (<a href="/wiki/Follicle-stimulating_hormone_insensitivity" title="Follicle-stimulating hormone insensitivity">Follicle-stimulating hormone insensitivity</a>, <a href="/wiki/XX_gonadal_dysgenesis" title="XX gonadal dysgenesis">XX gonadal dysgenesis</a>)</li> <li><i><a href="/wiki/Gonadotropin-releasing_hormone_receptor" title="Gonadotropin-releasing hormone receptor">GnRHR</a></i> (<a href="/wiki/Gonadotropin-releasing_hormone_insensitivity" title="Gonadotropin-releasing hormone insensitivity">Gonadotropin-releasing hormone insensitivity</a>)</li> <li><i><a href="/wiki/Endothelin_receptor" title="Endothelin receptor">EDNRB</a></i> (<a href="/wiki/ABCD_syndrome" title="ABCD syndrome">ABCD syndrome</a>, <a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 4a</a>, <a href="/wiki/Hirschsprung%27s_disease" title="Hirschsprung's disease">Hirschsprung's disease 2</a>)</li> <li><i><a href="/wiki/AVPR2" class="mw-redirect" title="AVPR2">AVPR2</a></i> (<a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus 1</a>)</li> <li><i><a href="/wiki/Prostaglandin_E2_receptor" title="Prostaglandin E2 receptor">PTGER2</a></i> (<a href="/wiki/Aspirin-exacerbated_respiratory_disease" title="Aspirin-exacerbated respiratory disease">Aspirin-exacerbated respiratory disease</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class B</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/PTH1R" class="mw-redirect" title="PTH1R">PTH1R</a></i> (<a href="/wiki/Jansen%27s_metaphyseal_chondrodysplasia" title="Jansen's metaphyseal chondrodysplasia">Jansen's metaphyseal chondrodysplasia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class C</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Calcium-sensing_receptor" title="Calcium-sensing receptor">CASR</a></i> (<a href="/wiki/Familial_hypocalciuric_hypercalcemia" title="Familial hypocalciuric hypercalcemia">Familial hypocalciuric hypercalcemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class F</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/FZD4" class="mw-redirect" title="FZD4">FZD4</a></i> (<a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Enzyme-linked_receptor" title="Enzyme-linked receptor">Enzyme-linked receptor</a><br />(including<br /><a href="/wiki/Growth_factor_receptor" title="Growth factor receptor">growth factor</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Receptor_tyrosine_kinase" title="Receptor tyrosine kinase">RTK</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ROR2" title="ROR2">ROR2</a></i> (<a href="/wiki/Robinow_syndrome" title="Robinow syndrome">Robinow syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_1" title="Fibroblast growth factor receptor 1">FGFR1</a></i> (<a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL2 Kallmann syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_2" title="Fibroblast growth factor receptor 2">FGFR2</a></i> (<a href="/wiki/Apert_syndrome" title="Apert syndrome">Apert syndrome</a>, <a href="/wiki/Antley%E2%80%93Bixler_syndrome" title="Antley–Bixler syndrome">Antley–Bixler syndrome</a>, <a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Crouzon_syndrome" title="Crouzon syndrome">Crouzon syndrome</a>, <a href="/wiki/Jackson%E2%80%93Weiss_syndrome" title="Jackson–Weiss syndrome">Jackson–Weiss syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_3" title="Fibroblast growth factor receptor 3">FGFR3</a></i> (<a href="/wiki/Achondroplasia" title="Achondroplasia">Achondroplasia</a>, <a href="/wiki/Hypochondroplasia" title="Hypochondroplasia">Hypochondroplasia</a>, <a href="/wiki/Thanatophoric_dysplasia" title="Thanatophoric dysplasia">Thanatophoric dysplasia</a>, <a href="/wiki/Muenke_syndrome" title="Muenke syndrome">Muenke syndrome</a>)</li> <li><i><a href="/wiki/Insulin_receptor" title="Insulin receptor">INSR</a></i> (<a href="/wiki/Donohue_syndrome" title="Donohue syndrome">Donohue syndrome</a></li> <li><a href="/wiki/Rabson%E2%80%93Mendenhall_syndrome" title="Rabson–Mendenhall syndrome">Rabson–Mendenhall syndrome</a>)</li> <li><i><a href="/wiki/TrkA_receptor" class="mw-redirect" title="TrkA receptor">NTRK1</a></i> (<a href="/wiki/Congenital_insensitivity_to_pain_with_anhidrosis" title="Congenital insensitivity to pain with anhidrosis">Congenital insensitivity to pain with anhidrosis</a>)</li> <li><i><a href="/wiki/CD117" class="mw-redirect" title="CD117">KIT</a></i> (<a href="/wiki/Piebaldism" title="Piebaldism">KIT Piebaldism</a>, <a href="/wiki/Gastrointestinal_stromal_tumor" title="Gastrointestinal stromal tumor">Gastrointestinal stromal tumor</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serine/threonine-specific_protein_kinase" title="Serine/threonine-specific protein kinase">STPK</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Anti-M%C3%BCllerian_hormone_receptor" title="Anti-Müllerian hormone receptor">AMHR2</a></i> (<a href="/wiki/Persistent_M%C3%BCllerian_duct_syndrome" title="Persistent Müllerian duct syndrome">Persistent Müllerian duct syndrome II</a>)</li></ul> <ul><li><a href="/wiki/TGF_beta_receptors" class="mw-redirect" title="TGF beta receptors">TGF beta receptors</a>: <a href="/wiki/Endoglin" title="Endoglin">Endoglin</a>/<a href="/wiki/ACVRL1" title="ACVRL1">Alk-1</a>/<a href="/wiki/Mothers_against_decapentaplegic_homolog_4" title="Mothers against decapentaplegic homolog 4">SMAD4</a> (<a href="/wiki/Hereditary_hemorrhagic_telangiectasia" title="Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a>)</li> <li><a href="/wiki/TGF_beta_receptor_1" title="TGF beta receptor 1">TGFBR1</a>/<a href="/wiki/TGF_beta_receptor_2" title="TGF beta receptor 2">TGFBR2</a> (<a href="/wiki/Loeys%E2%80%93Dietz_syndrome" title="Loeys–Dietz syndrome">Loeys–Dietz syndrome</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Guanylate_cyclase" title="Guanylate cyclase">GC</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/GUCY2D" title="GUCY2D">GUCY2D</a></i> (<a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber's congenital amaurosis">Leber's congenital amaurosis 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/JAK-STAT_signaling_pathway" title="JAK-STAT signaling pathway">JAK-STAT</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Type_I_cytokine_receptor" title="Type I cytokine receptor">Type I cytokine receptor</a>: <i><a href="/wiki/Growth_hormone_receptor" title="Growth hormone receptor">GH</a></i> (<a href="/wiki/Laron_syndrome" title="Laron syndrome">Laron syndrome</a>)</li> <li><i><a href="/wiki/Granulocyte_macrophage_colony-stimulating_factor_receptor" class="mw-redirect" title="Granulocyte macrophage colony-stimulating factor receptor">CSF2RA</a></i> (<a href="/wiki/Surfactant_metabolism_dysfunction" title="Surfactant metabolism dysfunction">Surfactant metabolism dysfunction 4</a>)</li></ul> <ul><li><a href="/wiki/Myeloproliferative_leukemia_virus_oncogene" class="mw-redirect" title="Myeloproliferative leukemia virus oncogene">MPL</a> (<a href="/wiki/Congenital_amegakaryocytic_thrombocytopenia" title="Congenital amegakaryocytic thrombocytopenia">Congenital amegakaryocytic thrombocytopenia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tumor_necrosis_factor_receptor" class="mw-redirect" title="Tumor necrosis factor receptor">TNF receptor</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/TNFRSF1A" class="mw-redirect" title="TNFRSF1A">TNFRSF1A</a></i> (<a href="/wiki/TNF_receptor_associated_periodic_syndrome" title="TNF receptor associated periodic syndrome">TNF receptor associated periodic syndrome</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">Selective immunoglobulin A deficiency 2</a>)</li> <li><i><a href="/wiki/CD40_(protein)" title="CD40 (protein)">TNFRSF5</a></i> (<a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">Hyper-IgM syndrome type 3</a>)</li> <li><i><a href="/wiki/TNFRSF13C" class="mw-redirect" title="TNFRSF13C">TNFRSF13C</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID4</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID2</a>)</li> <li><i><a href="/wiki/Fas_receptor" title="Fas receptor">TNFRSF6</a></i> (<a href="/wiki/Autoimmune_lymphoproliferative_syndrome" title="Autoimmune lymphoproliferative syndrome">Autoimmune lymphoproliferative syndrome 1A</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lipid receptor</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lipoprotein_receptor-related_protein" title="Lipoprotein receptor-related protein">LRP</a>: <i><a href="/wiki/LRP2" title="LRP2">LRP2</a></i> (<a href="/wiki/Donnai%E2%80%93Barrow_syndrome" title="Donnai–Barrow syndrome">Donnai–Barrow syndrome</a>)</li> <li><i><a href="/wiki/Low_density_lipoprotein_receptor-related_protein_4" class="mw-redirect" title="Low density lipoprotein receptor-related protein 4">LRP4</a></i> (<a href="/wiki/Cenani%E2%80%93Lenz_syndactylism" title="Cenani–Lenz syndactylism">Cenani–Lenz syndactylism</a>)</li> <li><i><a href="/wiki/LRP5" title="LRP5">LRP5</a></i> (<a href="/wiki/Worth_syndrome" title="Worth syndrome">Worth syndrome</a>, <a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 4</a>, <a href="/wiki/Osteopetrosis" title="Osteopetrosis">Osteopetrosis 1</a>)</li></ul> <ul><li><i><a href="/wiki/LDL_receptor" title="LDL receptor">LDLR</a></i> (<a class="mw-selflink selflink">LDLR Familial hypercholesterolemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other/ungrouped</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Immunoglobulin_superfamily" title="Immunoglobulin superfamily">Immunoglobulin superfamily</a>: <a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">AGM3, 6</a></li></ul> <ul><li><a href="/wiki/Integrin" title="Integrin">Integrin</a>: <a href="/wiki/Leukocyte_adhesion_deficiency-1" title="Leukocyte adhesion deficiency-1">LAD1</a></li> <li><a href="/wiki/Glanzmann%27s_thrombasthenia" title="Glanzmann's thrombasthenia">Glanzmann's thrombasthenia</a></li> <li><a href="/wiki/Junctional_epidermolysis_bullosa_with_pyloric_atresia" class="mw-redirect" title="Junctional epidermolysis bullosa with pyloric atresia">Junctional epidermolysis bullosa with pyloric atresia</a></li></ul> <p><i><a href="/wiki/EDAR" class="mw-redirect" title="EDAR">EDAR</a></i> (<a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">EDAR hypohidrotic ectodermal dysplasia</a>) </p> <ul><li><i><a href="/wiki/PTCH1" title="PTCH1">PTCH1</a></i> (<a href="/wiki/Nevoid_basal-cell_carcinoma_syndrome" title="Nevoid basal-cell carcinoma syndrome">Nevoid basal-cell carcinoma syndrome</a>)</li> <li><i><a href="/wiki/BMPR1A" title="BMPR1A">BMPR1A</a></i> (<a href="/wiki/Juvenile_polyposis_syndrome" title="Juvenile polyposis syndrome">BMPR1A juvenile polyposis syndrome</a>)</li> <li><i><a href="/wiki/IL2RG" class="mw-redirect" title="IL2RG">IL2RG</a></i> (<a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a>)</li></ul> <dl><dt>See also</dt> <dd><a href="/wiki/Template:Cell_surface_receptors" title="Template:Cell surface receptors">cell surface receptors</a></dd></dl> </div></td></tr></tbody></table></div> <p class="mw-empty-elt"> </p>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=Familial_hypercholesterolemia&oldid=1244340328">https://en.wikipedia.org/w/index.php?title=Familial_hypercholesterolemia&oldid=1244340328</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a href="/wiki/Category:Lipid_metabolism_disorders" title="Category:Lipid metabolism disorders">Lipid metabolism disorders</a></li><li><a href="/wiki/Category:Autosomal_dominant_disorders" title="Category:Autosomal dominant 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