Published: 2 July 2021
Author(s): Andrea Ricci, Matteo Marcacci, Chiara Cuoghi, Antonello Pietrangelo, Paolo Ventura
Issue: October 2021
Section: Letter to the Editor

Acute hepatic porphyrias (AHPs) are a group of rare diseases caused by an enzymatic dysfunction in the biosynthesis of heme [1]. AHPs’ clinical landmarks are recurrent crisis of neurovisceral attacks [acute porphyric attacks (APAs)], characterized by severe abdominal pain and peripheral and central neurological involvement, ranging from mild-moderate to life-threatening. APAs are usually unleashed by trigger events (e.g. fasting, alcohol intake, menses, use of ”porphyrinogenic” drugs or hormones) responsible for a supposed further relative heme deficiency, in turn inducing an up-regulation of liver δ-amino-levulinic acid synthase (ALAS1), the first enzyme of the pathway leading to heme biosynthesis.


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