Acute hepatic porphyrias-A guide for hepatologists

Abstract

The acute hepatic porphyrias (AHPs) are a group of rare, inherited disorders of the heme biosynthesis pathway, usually manifesting with attacks of acute abdominal pain and other neurovisceral symptoms, with or without cutaneous manifestations. AHPs are characterized by the accumulation of porphyrin precursors, porphobilinogen, and/or aminolevulinic acid, in the blood. The diagnosis is often missed or delayed due to both inadequate testing and the improper use of available laboratory tests. In this review, we describe the various clinical presentations of the 4 AHPs, elucidate the approach to diagnosis, and provide recommendations for immediate and long-term management. We also describe the different complications that can occur with long-standing AHP, including the development of HCC. The AHPs are very treatable conditions, with excellent outcomes if diagnosed and treated early. A high index of suspicion for the presence of these disorders, along with accurate testing and timely treatment, will help reduce the burden of disease and prevent irreversible complications in patients with AHP.