Update on the Porphyrias

Abstract

The porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary site of accumulation of heme intermediates. These disorders are multisystemic with variable symptoms that can be encountered by physicians in any specialty. Here, we review the porphyrias and describe their clinical presentation, diagnosis, and management. We discuss novel therapies that are approved or in development. Early diagnosis is key for the appropriate management and prevention of long-term complications in these rare disorders.

Keywords: acute hepatic porphyria; acute intermittent porphyria; congenital erythropoietic porphyria; erythropoietic protoporphyria; porphyria; porphyria cutanea tarda; protoporphyria.