Robert J. Desnick Ph.D, MD, Dean for Genetics and Genomic Medicine at the Icahn School of Medicine and Manisha Balwani MD, MS, Associate Professor at the Icahn School of Medicine at Mount Sinai, provide their insight on what causes acute intermittent porphyria (AIP), on recognizing AIP symptoms, and on diagnosis and testing of AIP. Dr. Desnick and Dr. Balwani are part of the Porphyrias Consortium, as well as members of the Scientific Advisory Board for the American Porphyria Foundation.
The heme biosynthetic pathway can function with half-normal activity of the PBG enzyme. However, with certain precipitating factors, this pathway can become overactivated and can cause an AIP attack. Watch this video to better understand the pathogenesis of AIP.
Watch this video that discusses what signs and symptoms to look for and what precipitating factors to be aware of when identifying a patient with possible AIP.
Watch this video to better understand how to properly test a patient for AIP, some potential pitfalls that can be encountered during the testing process, and how to avoid them.
A delay in diagnosis of acute intermittent porphyria is common because of variable non-specific symptoms. Watch this video that discusses the challenge of identifying AIP patients, common misdiagnoses, and the consequences of untreated or poorly treated AIP.
Understanding acute intermittent porphyria starts with awareness—and hearing from those who know it best. In this exclusive video series, Dr. Roy E. Smith, a recognized authority in Porphyria, shares clinical insights to help healthcare professionals better identify and diagnose this often-overlooked condition.
Expert in Acute Hepatic Porphyrias and Rare Diseases
Professor of Medicine, Division of Hematology/Oncology, University of Pittsburgh School of Medicine
National thought leader in AIP diagnosis and clinical management
Roy. E. Smith, MD is a paid consultant of Recordati Rare Diseases Inc.Whether you’re encountering AIP for the first time or looking to refine your diagnostic acumen, this series offers practical knowledge to help you deliver earlier, more accurate care.
Explore a real-world case to understand the signs, symptoms, and triggers of AIP—and why early clinical suspicion matters.
Learn when and how to test for AIP—what to order, what to avoid, and why early diagnosis can be lifesaving.
Access practical tools to support accurate identification, diagnosis, and management of acute intermittent porphyria. Each resource is designed to help streamline care and enhance clinical confidence.
A quick-reference list of major labs offering ALA, PBG, and porphyrin urine testing to support timely and accurate AIP diagnosis.
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Clinical guide to help identify, diagnose, and manage AIP using patient case studies, symptom checklists, and testing recommendations.
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