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How Chronic GI Symptoms Can Mask a Rare Disease—One Patient’s Journey to an Accurate Diagnosis of Acute Hepatic Porphyria

Symptoms of Acute Hepatic Porphyria (AHP) often resembles those of other diseases including those in the gastrointestinal tract. Severe symptoms can lead to unnecessary surgeries or procedures. Nicole shares her all too common story of enduring years of misdiagnosis and heartbreaking surgeries before she was finally diagnosed with AHP and properly treated. Dr. Angelika Erwin, who specializes in the porphyrias, explains why this rare genetic condition can stump even the most acute medical experts.

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Dr. Angelika Erwin

Dr. Angelika Erwin is a board‐certified clinical geneticist and internist at the Center for Personalized Genomic Healthcare at the Cleveland Clinic. She is also an Assistant Professor of Pediatrics at the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University and Founder/Director of MyGeneticist, a private genetics practice in Miami, FL. Her clinical interests include the porphyrias, and she is a member of the Porphyrias Consortium, comprised of the nation’s foremost experts in porphyria. She also serves as a consultant of Alnylam Pharmaceuticals to help educate about the condition.

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