Videos by Porphyria Experts

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.

Causes of Acute Intermittent Porphyria

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.

Recognizing AIP Symptoms

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.

Diagnostic Testing for 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.

Challenges in Diagnosing AIP

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.