Kristen Wheeden, DrPH, MBA, discusses porphyria—the rare “vampire” disease—its stigma, and advances in patient care.

An acute AIP attack may have numerous clinical manifestations. Abdominal pain is not only the most common symptom, but also is often the first sign of an acute attack. [3] Other common symptoms ...

SOME of the manifestations of acute intermittent porphyria are suggestive of thyrotoxicosis. These include emotional lability, tachycardia and muscular weakness, and such findings have on occasion led ...

Please provide your email address to receive an email when new articles are posted on . In her session, Dickey, an assistant professor at Massachusetts General Hospital, looked at a form of porphyria ...

Acute hepatic porphyria is caused by defects in heme biosynthesis enzymes; the accumulation of neurotoxic heme intermediates causes injury to the nervous system and other organs. Attacks typically ...

The Nature Index 2025 Research Leaders — previously known as Annual Tables — reveal the leading institutions and countries/territories in the natural and health sciences, according to their output in ...

Acute hepatic porphyria, or AHP, is a group of rare genetic conditions that affect how the body makes a natural substance called heme. Heme is produced in the liver and is essential for many important ...

Learn about porphyria, its types, causes, symptoms, and treatment options. Understand this rare health disorder and how to manage its flare-ups effectively ...

Variegate porphyria (VP) is an autosomal dominant condition that results from the deficiency of protoporphyrinogen oxidase (PPOX, EC 1.3). The build-up of porphyrin precursors delta-aminolevulinic ...

AHPs are comprised of four subtypes, each resulting from a genetic defect leading to deficiency in one of the enzymes of the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), ...

– The Alnylam Act ® program is a genetic testing initiative designed to enable improved patient diagnosis of three rare, devastating, and life-threatening genetic diseases – – Through the Alnylam Act ...

The program, called Alnylam Act ®, provides genetic testing for the diagnosis of acute hepatic porphyria, primary hyperoxaluria type 1 (PH1), and hereditary ATTR (hATTR) amyloidosis. Along with ...