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Acute hepatic porphyria, or AHP, refers to a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic pain and other debilitating symptoms that negatively impact everyday life.

Severe, unexplained abdominal pain is the most common symptom of AHP, and people may also experience nausea, vomiting, seizures, anxiety and depression, and pain in their limbs, back, or chest. Because AHP is so rare and its symptoms resemble those of more common conditions, misdiagnosis is common, which can lead to unnecessary treatments, surgeries, and hospital stays. In fact, people with AHP can wait up to 15 years for an accurate and confirmed diagnosis. Common misdiagnoses include depression, endometriosis, and fibromyalgia, as well as gastrointestinal disorders like irritable bowel syndrome and appendicitis.

One of the most definitive techniques a doctor uses to help determine if a patient has AHP is a urine test, which includes analysis of PBG (porphobilinogen), ALA (aminolevulinic acid), and porphyrin levels. We met with Dr. Angelika Erwin, a porphyria expert and member of the Porphyrias Consortium, as well as Nicole, who shares her experience living with AHP and recounts her 12-year search for a diagnosis.

To learn more about AHP, speak with your doctor. You can also visit Alnylam’s for educational information and resources.

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