CINXE.COM

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href="https://www.alnylam.it/">Italiano</a></div> </div> </span> </div> </div> </div> </div> </section> </div> </div> </div> </div> </header> <div id="maindiv" class="container-fluid"> <main id="midcontent-area" class="column main-content"> <div id="content"> <div class="region region-content"> <div data-drupal-messages-fallback class="hidden"></div> <article data-history-node-id="5103" role="article" about="/patients/porphyria" typeof="schema:WebPage" class="page full clearfix"> <span property="schema:name" content="Acute Hepatic Porphyria" class="hidden"></span> <div class="content"> <div class="field field--name-field-add-section field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--sim paragraph-id--1913 paragraph--view-mode--default"> <div id="simple-banner-wrapper"> <div class="simple-banner" style=""> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/glauciene_0.png" width="3840" height="1152" alt="Glauciene" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> <div class="quote" style="width:1130px; margin:auto;"> <div class="field field--name-field-qutote field--type-text-long field--label-hidden field--item"><p>Glauciene, living with acute hepatic porphyria</p> </div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--banner-overlay-html-content paragraph-id--1914 paragraph--view-mode--default"> <div class="banner-overlay-html-content-description--component " style="width:1130px; margin:auto;"> <div class="field field--name-field-body field--type-text-with-summary field--label-hidden field--item"><p class="mobile-eyebrow"><span class="our-secondary-dark">Patients</span></p> <h1 class="secondary-dark text-align-center"><strong>ACUTE HEPATIC PORPHYRIA</strong></h1> <h2 class="text-align-center">Understanding Acute Hepatic Porphyria</h2> <p class="text-center font-20 text-align-center">Acute hepatic porphyria (AHP) refers to a family of rare genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic debilitating symptoms that negatively impact daily functioning and quality of life.</p> <p>There are four types of AHP, each associated with distinct enzyme defects in the heme biosynthesis pathway in the liver: Acute intermittent porphyria (AIP), Variegate porphyria (VP), Hereditary coproporphyria (HCP) and ALAD-deficiency porphyria (ADP).</p> </div> </div> </div> </div> <div class="field--item"><section class="colored-four-cards vertical-cards"> <div class=""> <h2 class="colored-cards-header "> AHP At-A-Glance </h2> <div class="colored-card-container"> <div class="field field--name-field-colored-card field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/5000-ahp-attacks-1000-serve-attacks.svg"><img src="/sites/default/files/2023-05/5000-ahp-attacks-1000-serve-attacks.svg" alt="5000-ahp-attacks-1000-serve-attacks" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>In the United States and Europe, approximately <strong>5,000</strong> people experience one or more AHP attacks annually, and approximately <strong>1,000</strong> suffer frequent and severe attacks.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/ahp-gender.svg"><img src="/sites/default/files/2023-05/ahp-gender.svg" alt=" ahp-gender" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>AHP can affect people of all genders and ages, but most cases are in <strong>women</strong> between the ages of <strong>15</strong> and <strong>45</strong>. Approximately <strong>80%</strong> of people with AHP are <strong>women</strong>, while around <strong>20%</strong> are <strong>men</strong>.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/severe.svg"><img src="/sites/default/files/2023-05/severe.svg" alt="severe" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p><strong>Severe, unexplained abdominal pain</strong> is the most common symptom, occurring in more than <strong>90%</strong> of people who experience AHP attacks.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/wait-15-years.svg"><img src="/sites/default/files/2023-05/wait-15-years.svg" alt="wait-15-years" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>People living with AHP can <strong>wait on average up to 15 years</strong> to receive an accurate diagnosis.</p> </div></div> </div> </div> <div class="colored-section-describtion"></div> </div> </section> </div> <div class="field--item"><section class="colored-four-cards horizontal-cards"> <div class=""> <h2 class="colored-cards-header "> AHP Inside The Body </h2> <div class="colored-card-container"> <div class="field field--name-field-colored-card field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/ahp-graphic-1.svg"><img src="/sites/default/files/2023-05/ahp-graphic-1.svg" alt="ahp-graphic" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>AHP is <strong>caused by a mutation</strong> in one of the enzymes that creates heme, resulting in an overproduction of ALAS1 (aminolevulinic acid<br /> synthase 1).</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/liver-icon.svg"><img src="/sites/default/files/2023-05/liver-icon.svg" alt="liver-icon" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>In a <strong>patient with AHP</strong>, the increase in ALAS1 results in the <strong>buildup of neurotoxic intermediates</strong> - delta-aminolevulinic acid (ALA) and prophobilinogen (PBG) - throughout the body.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/ahp-graphic-3.svg"><img src="/sites/default/files/2023-05/ahp-graphic-3.svg" alt="ahp-graphic-3" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p><strong>ALA and PBG are harmful to nerve cells</strong> and thought to cause attacks and chronic symptoms characteristic of AHP.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/ahp-graphic-4.svg"><img src="/sites/default/files/2023-05/ahp-graphic-4.svg" alt=" ahp-graphic" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>These attacks can result in <strong>severe abdominal pain, neurological symptoms, muscle weakness, </strong>and <strong>skin conditions.</strong>**</p> </div></div> </div> </div> <div class="colored-section-describtion"></div> </div> </section> </div> <div class="field--item"><section class="body-points seven-icons"> <div class="baby-blue-bg"> <div class="body-points-container"> <h2 class="body-points-title text-center">What Are The Symptoms of AHP?</h2> <div class="body-points-top-description"> <p>While most people with AHP experience severe abdominal pain during attacks, symptoms vary from person to person, and some will experience symptoms more frequently or more severely than others.</p> <p>Acute attacks can be life-threatening and can last for days, while severe symptoms can lead to hospitalization and unnecessary surgeries or procedures. Additionally, some people with AHP also experience debilitating symptoms daily, even when they are not having attacks.*</p> </div> <div class="body-points-description"> <p>*Not every person with AHP will experience all symptoms listed here. Talk to your doctor if you think you are experiencing symptoms of AHP.</p> <p>**Hereditary coproporphyria and variegate porphyria primarily</p> </div> <div class="body-image-wrapper"> <div class="body-image"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/seven-body-points.svg" alt="seven-body-points" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> <div class="field field--name-field-add-icon field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#990066;color:#990066"> <h3 style="color:#990066">Central Nervous System Symptoms</h3> <ul> <li>Confusion</li> <li>Anxiety</li> <li>Seizures</li> <li>Insomnia</li> <li>Hallucinations</li> <li>Depression</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-magenta_0.svg" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/icon-pipeline-default-brain.svg" alt="brain" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#ff9900;color:#ff9900"> <h3 style="color:#ff9900">Cardiovascular Symptoms</h3> <ul> <li>Rapid heart rate</li> <li>High blood pressure</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-orange_0.svg" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/heart.png" width="528" height="528" alt="heart" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#663366;color:#663366"> <h3 style="color:#663366">Gastrointestinal Symptoms</h3> <ul> <li>Constipation or diarrhea</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-purple.png" width="144" height="144" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/icon-pipeline-default-stomic.svg" alt="gastrointestinal-symptoms" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#0099cb;color:#0099cb"> <h3 style="color:#0099cb">Autonomic Nervous System</h3> <ul> <li>Unexplained abdominal pain</li> <li>Pain in back or chest</li> <li>Nausea and vomiting</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-brand-light-blue.png" width="144" height="144" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/icon-pipeline-default-back-pain.svg" alt="icon-pipeline-default-back-pain" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#6eceb2;color:#6eceb2"> <h3 style="color:#6eceb2">Peripheral Nervous System Symptoms</h3> <ul> <li>Limb weakness or pain</li> <li>Numbness</li> <li>Fatigue</li> <li>Tiredness</li> <li>Paralysis</li> <li>Respiratory paralysis</li> <li>Sensory loss</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-green.svg" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/icon-pipeline-default-nerve-cell.svg" alt="icon-pipeline-default-nerve-cell" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#00bbd3;color:#00bbd3"> <h3 style="color:#00bbd3">Cutaneous (Skin) Symptoms**</h3> <ul> <li>Lesions or blisters on sun-exposed skin</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-turquoise.png" width="144" height="144" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/icon-pipeline-default-head.svg" alt=" icon-pipeline-default-head" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#003366;color:#003366"> <h3 style="color:#003366">Other Symptoms</h3> <ul> <li>Dark or reddish urine</li> <li>Low blood sodium</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-blue.svg" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/icon-pipeline-default-paper.svg" alt="icon-pipeline-default-paper" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> </div> </div> <div class="body-points-blue-box"> <div class="body-points-blue-description"> <div class="d-flex"> <div class="left-section"> <h3>AHP Backgrounder</h3> <p>Download this fact sheet to learn more about AHP</p> </div> <div class="right-section"><a href="/sites/default/files/pdfs/acute-hepatic-porphyria-backgrounder-us.pdf" target="_blank">DOWNLOAD PDF <img class="img-responsive" src="/sites/default/files/inline-images/icon-button-download.svg" /></a></div> </div> </div> </div> </div> </div> </section></div> <div class="field--item"> <div class="paragraph paragraph--type--body paragraph-id--1915 paragraph--view-mode--default"> <div class="description--component" style="width:px; margin:auto; "> <div class="field field--name-field-body field--type-text-with-summary field--label-hidden field--item"><div class="whole-patient-comes-first-section custom-video third-image" style="background:#00254b;"> <div class="content pl-0"> <div class="description"> <div class="field field--name-field-body field--type-text-with-summary field--label-hidden field--item" data-quickedit-field-id="paragraph/327/field_body/en/default"> <h2 class="text-center">AHP Perspectives</h2> </div> </div> </div> <div class="image-quote overlap"> <div class="image"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item" data-quickedit-field-id="paragraph/327/field_upload_image/en/default"><img alt="nathan" data-entity-type="file" data-entity-uuid="e963c667-63f2-4541-b9d3-6ff2649f7282" src="/sites/default/files/inline-images/nathan_0.png" /></div> </div> <div class="quote"> <div class="field field--name-field-qutote field--type-text-long field--label-hidden field--item" data-quickedit-field-id="paragraph/327/field_qutote/en/default"> <p class="quote-text">The pain caused by hereditary coproporphyria (HCP) is just something I wouldn’t want anyone to have to go through.</p> <p class="text-align-right"><span>– Nathan, diagnosed with Hereditary Coproporphyria (HCP)</span></p> </div> </div> <div class="cboxElement as" data-colorbox-inline=".patients-comes-first-video-home"> <div class="three-column-video-play-button"> </div> </div> <div class="patients-comes-first-video-home" style="display: none;"> <div class="field field--name-field-embed-video field--type-video-embed-field field--label-hidden field--item" data-once="quickedit" data-quickedit-field-id="paragraph/464/field_embed_video/en/default"> <div class="video-embed-field-provider-youtube video-embed-field-responsive-video form-group"><iframe allowfullscreen="allowfullscreen" data-gtm-yt-inspected-6886893_103="true" frameborder="0" height="480" id="566659760" src="https://www.youtube.com/embed/4Lauja911d4?start=0&rel=0" width="854"></iframe></div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="field--item"><section class="center-cards-section"> <div class="center-cards-container"> <h2>Additional Information</h2> <div class="center-cards-wrapper"> <div class="field field--name-field-add-center-card 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class="text-align-center">You are now being directed to another Alnylam website that contains information about specific treatment(s).</p> <p class="text-align-center"><a class="text-center" href="https://www.porphyria.com/" target="_blank">Proceed to Site</a></p> </div> </div> </div> </div></div> <div class="field--item"><div class="center-card-item"> <div class="center-cards-image"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/alnylam-act.png" width="813" height="498" alt="alnylam-act" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> <h3>Alnylam Act®</h3> <div class="center-card-description"> <p>Alnylam Act® provides no-charge independent genetic testing and counseling to individuals in the U.S. and Canada who may have porphyria.</p> <p><a href="/medical-professional-resources/genetic-testing-counseling">GET MORE INFO ›</a></p> </div> </div></div> </div> </div> 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