CINXE.COM

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"url":"https://www.porphyria.com/themes/custom/porphyria/assets/images/patient/aboutAHP/signs-desktop.png"}, {"@type": "MedicalSymptom", "name": "Central Nervous System", "Description": "Confusion, anxiety, seizures, insomnia, hallucinations, depression", "url":"https://www.porphyria.com/themes/custom/porphyria/assets/images/patient/aboutAHP/signs-desktop.png"}, {"@type": "MedicalSymptom", "name": "Cutaneous (Skin) Symptoms", "Description": "Lesions or blisters on sun-exposed skin", "url":"https://www.porphyria.com/themes/custom/porphyria/assets/images/patient/aboutAHP/signs-desktop.png"}, {"@type": "MedicalSymptom", "name": "Cardiovascular", "Description": "Rapid heart rate, high blood pressure", "url":"https://www.porphyria.com/themes/custom/porphyria/assets/images/patient/aboutAHP/signs-desktop.png"}, {"@type": "MedicalSymptom", "name": "Other", "Description": "Dark or reddish urine, low blood sodium", "url":"https://www.porphyria.com/themes/custom/porphyria/assets/images/patient/aboutAHP/signs-desktop.png"}], "differentialDiagnosis": ["Gastrointestinal disorders","Gynecological disorders","Neurological/neuropsychiatric disorders","Abdominal conditions requiring surgery"], "potentialAction": [ {"@type": "ViewAction", "name": "Learn How Doctors Diagnose AHP", "Description": "THERE ARE SIMPLE TESTS YOUR DOCTOR CAN PERFORM TO CONFIRM IF YOU HAVE AHP", "url": "https://www.porphyria.com/diagnosing-ahp"}, {"@type": "ViewAction", "name": "Learn How Doctors Diagnose AHP", "url": "https://www.porphyria.com/diagnosing-ahp"}, {"@type": "RegisterAction", "name": "Sign up to receive updated information about AHP from Alnylam", "description": ["Patient","Caregiver","Medical Professional","Other"]}]}], {"@type": "Organization", "name": "Alnylam Pharmaceuticals", "sameAs": "https://www.alnylam.com/"}]} </script> <base href="/">  <link rel="stylesheet" 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rare genetic disease</h1> <p>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. There are four types of AHP:</p> <div class="center-section"> <h3>The different types of AHP</h3> <h6>Most common</h6> <div class="ahp-types"> <ul> <li><img alt="Types of acute hepatic porphyria from most common to most rare" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/about-down-arrow.png" /></li> </ul> <ul> <li>Acute intermittent porphyria (AIP)</li> <li>Variegate porphyria (VP)</li> <li>Hereditary coproporphyria (HCP)</li> <li>ALAD-deficiency porphyria (ADP)</li> </ul> </div> <h4>Extremely rare</h4> </div> <p>The symptoms of AHP often resemble those of other diseases in the gastrointestinal, gynecological, and neurological or neuropsychiatric areas. Severe symptoms can lead to hospitalizations and unnecessary surgeries or procedures. <strong>Misdiagnosis is common, and people with AHP can wait years for an accurate and confirmed diagnosis.</strong></p> </div> </div> <a id="how-ahp-affects-body" name="how-ahp-affects-body"></a></section> <section class="blueSection what-ahp-body"> <div class="container"> <div class="row"> <div class="col-md-12"> <p>Find out more about how AHP works by watching the video below. It takes you inside the body, for a deeper understanding of the disease, its signs and symptoms, and common misdiagnoses.</p> <div class="mod-video"> <div class="embed-responsive embed-responsive-16by9"><iframe allow="autoplay; fullscreen; picture-in-picture" allowfullscreen="" frameborder="0" height="359" src="https://player.vimeo.com/video/741171814?h=d4bb560fe3&title=0&byline=0&portrait=0" title="How AHP works video thumbnail" width="640"></iframe></div> </div> <h2>What AHP Does To The Body</h2> <ul> <li>In people with a genetic defect for AHP, one of the enzymes in the heme pathway doesn’t work properly</li> <li>Heme is essential to our body and is necessary for our liver to function properly</li> <li>In the liver, the heme pathway is controlled by an enzyme called ALAS1</li> <li>When ALAS1 activity is increased, the enzyme that doesn’t work properly is unable to keep up. This results in the buildup of toxins called aminolevulinic acid (ALA) and porphobilinogen (PBG) in the liver, which are released throughout the body</li> <li>ALA and PBG are harmful to nerve cells and have been associated with the symptoms and attacks of AHP</li> <li>Attacks are associated with widespread dysfunction within the nervous system and a wide array of symptoms that can mimic those of other diseases, making a diagnosis difficult</li> </ul> <h2>AHP can affect anyone</h2> <ul> <li>AHP affects people of all races and ethnicities</li> <li>AHP can affect people of all genders and ages, but most cases are in women between the ages of 15 and 45</li> <li>Approximately 80% of people with AHP are women, while around 20% are men</li> <li>Not everyone who has a genetic mutation for AHP will develop symptoms</li> </ul> </div> </div> </div> </section> <section class="experienceSection"> <div class="container"> <div class="row"> <div class="col-md-12"> <h2>Everyone experiences AHP<br class="visible-sm" /> in a different way</h2> <p>Acute attacks can be life-threatening and can last for days. Acute attacks are not the only sign of AHP—some people with AHP also experience debilitating symptoms daily, even when they are not having attacks. This is part of what makes diagnosis difficult.</p> </div> <div class="col-md-5 acute-chronic-ahp greyDivider"> <h3>ACUTE AHP attacks</h3> <img alt="Person experiencing ongoing pain from acute hepatic porphyria (AHP)" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/purplelady.png" /> <p>Acute attacks can cause severe problems in many parts of the body, and often require hospitalization.</p> </div> <div class="col-md-2 hidden-sm hidden-xs acute-chronic-ahp"><img alt="" class="divider-line" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/line.jpg" /></div> <div class="col-md-5 acute-chronic-ahp chronic"> <h3>CHRONIC AHP SYMPTOMS</h3> <img alt="Person experiencing ongoing pain from acute hepatic porphyria" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/yellowlady.png" /> <p>Chronic symptoms, such as anxiety, nausea, pain, and fatigue can take a serious toll on some people with AHP.</p> </div> </div> </div> </section> <section class="ctaSection"> <div class="container"> <div class="row"> <div class="col-sm-10 col-md-6 col-sm-offset-1 flex"> <div> <h2>There are tests your doctor<br class="hidden-xs hidden-sm" /> can perform to help<br class="hidden-xs hidden-sm" /> determine if you <span class="nowrap">have AHP</span></h2> </div> </div> <div class="col-sm-10 col-sm-offset-1 col-md-5 col-md-offset-0 flex"> <div><a class="btn btn-default btn-special" href="/diagnosing-ahp">Learn Ways Doctors Test For AHP</a></div> </div> </div> </div> </section> <section class="quoteSection"> <div class="container"> <div class="row quotes"> <div class="col-md-3 hidden-xs hidden-sm"><img alt="Person diagnosed with acute hepatic porphyria" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/aboutPatientCirclePic.png" /></div> <div class="col-md-9 quoteHeader"> <div class="carousel-inner"> <div class="item active"> <blockquote> <div class="row"> <div class="col-md-11 text-center"> <p>By the time I was 14, I had more unexplained attacks. My symptoms included tremors, seizures, sunburns and light sensitivity, frequent vomiting, abdominal pain, severe all-body pain, muscle weakness, memory loss, and diarrhea.</p> <em>— Nathan, living with AHP</em></div> </div> </blockquote> </div> </div> </div> <div class="col-md-3 visible-sm visible-xs"><img alt="Person diagnosed with acute hepatic porphyria" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/aboutPatientCirclePic.png" /></div> </div> </div> </section> <section class="recognize-section"> <div class="container"> <div class="row"> <div class="col-md-12 col-sm-12"> <h2>Recognizing the signs and symptoms</h2> <p>Because the symptoms of AHP can mimic many other diseases, being aware of its many possible symptoms can help your doctor identify the disease as early as possible. Recognizing the symptoms is a crucial first step to understanding the disease and knowing how to reduce the likelihood of attacks.</p> <p>Severe, unexplained abdominal pain is the most common symptom, occurring in <strong>more than 90% of people who experience AHP attacks</strong>. People with AHP are likely to also experience at least one of many other, seemingly unrelated symptoms.</p> </div> </div> </div> </section> <section class="signs-section greySection"> <div class="container"> <div class="row" style="margin-bottom:40px;"> <div class="col-md-12"><a id="signs-and-symptoms" name="signs-and-symptoms"></a> <h2 style="margin-bottom:40px; justify-content:center; font-size:24px;">Signs and Symptoms of AHP</h2> <p>While most people with AHP experience severe abdominal pain during attacks, symptoms vary from person to person and change over time. Not every person with AHP will experience all of the symptoms listed here, and some will experience symptoms more frequently or more severely than others.</p> </div> </div> <div class="row diagram"> <div class="col-md-4"> <div class="blue-box"> <h2><span>1</span>CENTRAL<br class="d-none d-xl-block" /> NERVOUS SYSTEM</h2> <div class="inner"> <p>Confusion<br /> Anxiety<br /> Seizures<br /> Insomnia<br /> Hallucinations<br /> Depression</p> </div> </div>  <div class="blue-box"> <h2><span>2</span>PERIPHERAL<br class="d-none d-xl-block" /> NERVOUS SYSTEM</h2> <div class="inner"> <p>Limb weakness or pain<br /> Numbness<br /> Fatigue<br /> Tiredness<br /> Paralysis<br /> Respiratory paralysis<br /> Sensory loss</p> </div> </div>  <div class="blue-box"> <h2><span>3</span>CARDIOVASCULAR</h2> <div class="inner"> <p>Rapid heart rate<br /> High blood pressure</p> </div> </div> </div> <div class="col-md-4 diagram"><img alt="signs and symptoms diagram" data-entity-type="file" data-entity-uuid="f824b2e1-e5a3-444d-aefd-9da12e95867c" src="/sites/default/files/inline-images/2.0_SignsAndSymptomsIllustration.png" /></div> <div class="col-md-4"> <div class="blue-box"> <h2><span>4</span>CUTANEOUS (SKIN) SYMPTOMS*</h2> <div class="inner"> <p>Lesions or blisters on <nobr>sun-exposed</nobr> skin</p> </div> </div>  <div class="blue-box"> <h2><span>5</span>GASTROINTESTINAL</h2> <div class="inner"> <p>Constipation or diarrhea</p> </div> </div>  <div class="blue-box"> <h2><span>6</span>AUTONOMIC<br class="d-none d-xl-block" /> NERVOUS SYSTEM</h2> <div class="inner"> <p>Unexplained abdominal pain<br /> Pain in back or chest<br /> Nausea and vomiting</p> </div> </div>  <div class="blue-box"> <h2 style="padding-left:45px;">Other</h2> <div class="inner"> <p>Dark or reddish urine<br /> Low blood sodium</p> </div> </div> </div> </div> <div class="row"> <div class="col-md-12"> <p><small>*Hereditary coproporphyria and variegate porphyria primarily.</small></p> </div> </div> </div> </section> <section class="triggers-section"> <div class="container"> <div class="row"> <div class="col-md-12"> <h2>There are a number of triggers for AHP attacks</h2> <p>Common triggers are shown below. Since triggers can be different for every person, there may be others not <span class="nowrap">listed here.</span></p> <div class="col-md-2 trigger-awareness"><img alt="Certain medications as a trigger" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/prescription-drugs.png" /> <p><span>SOME MEDICATIONS</span></p> </div> <div class="col-md-2 trigger-awareness"><img alt="Hormones as triggers" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/hormones.png" /> <p><span>Hormones</span> <b class="fixed-line">including levels of</b> <b class="fixed-line">estrogen and</b> <b class="fixed-line">progesterone. These</b> <b class="fixed-line">hormones fluctuate the</b> <b class="fixed-line">most during the 2 weeks</b> <b class="fixed-line">before a woman’s</b> <b class="fixed-line">menstrual cycle begins</b></p> </div> <div class="col-md-2 trigger-awareness"><img alt="Alcohol consumption as a trigger" data-entity-type="file" data-entity-uuid="5adaff0a-f421-49c0-977b-84af76a7bc8a" src="/sites/default/files/inline-images/alcohol.png" /> <p><span>ALCOHOL</span></p> </div> <div class="col-md-2 trigger-awareness"><img alt="Smoking as a trigger" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/smoking.png" /> <p><span>SMOKING</span></p> </div> <div class="col-md-2 trigger-awareness"><img alt="Stress induced triggers" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/stress.png" /> <p class="mb-0"><span>Stress<br /> caused by:</span></p> <div class="inline text-left">−Infections<br /> −Surgery<br /> −Physical<br /> <span class="fake-space">−</span>exhaustion<br /> −Emotional<br /> <span class="fake-space">−</span>exhaustion</div> </div> <div class="col-md-2 trigger-awareness"><img alt="Fasting as a trigger" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/fasting.png" /> <p><span>Fasting</span> or extreme dieting</p> </div> </div> </div> </div> </section> <section class="blueSection ahp-misdiagnosed"> <div class="container"> <div class="row"> <div class="col-md-12"> <h2>AHP can be misdiagnosed as other conditions</h2> <p>The signs and symptoms of AHP can be mistaken for those of other conditions, shown below. These misdiagnoses can lead to unnecessary treatments, surgeries, and hospital stays.</p> </div> <div class="clearfix"> <div class="col-md-6 item-list-ahp"><img alt="Gastrointestinal misdiagnoses" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/Gastrointestinal-icon.png" /> <div class="item-content"> <h3>Gastrointestinal disorders</h3> <ul> <li>Irritable bowel syndrome (IBS)</li> <li>Acute gastroenteritis with vomiting</li> <li>Hepatitis</li> </ul> </div> </div> <div class="col-md-6 item-list-ahp"><img alt="Neurological or neuropsychiatric misdiagnoses" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/Neurological-icon.png" /> <div class="item-content"> <h3>Neurological/neuropsychiatric disorders</h3> <ul> <li>Fibromyalgia</li> <li>Guillain-Barré syndrome</li> <li>Psychosis</li> </ul> </div> </div> <div class="clearfix"> </div> <div class="col-md-6 item-list-ahp"><img alt="Gynecological misdiagnoses" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/Gynecological-icon.png" /> <div class="item-content"> <h3>Gynecological disorder</h3> <ul> <li>Endometriosis</li> </ul> </div> </div> <div class="col-md-6 item-list-ahp lastListItemAHP"><img alt="Abdominal conditions as misdiagnoses" src="/themes/custom/porphyria/assets/images/patient/aboutAHP/Abdominal-surgery-icon.png" /> <div class="item-content"> <h3>Abdominal conditions requiring surgery</h3> <ul> <li>Appendicitis</li> <li>Cholecystitis</li> <li>Peritonitis</li> <li>Intestinal occlusion</li> </ul> </div> </div> </div> <p class="text-center"><a class="btn btn-default" href="/diagnosing-ahp">Learn Ways Doctors Test for AHP </a></p> </div> </div> </section> <a id="signUpNow" name="signUpNow"></a></main> </div> </div> </article> </div> <div class="views-element-container" id="block-views-block-view-footer-custom-block-block-view-footer"> <div><div 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