Abstract
Hepatic porphyrias are a group of metabolic disorders that are characterized by overproduction
and accumulation of porphyrin precursors in the liver. These porphyrins cause neurologic
symptoms as well as cutaneous photosensitivity, and in some cases patients can experience
life-threatening acute neurovisceral attacks. This review describes the acute hepatic
porphyrias in detail, including acute intermittent porphyria, hereditary coproporphyria,
and variegate porphyria, as well as the hepatic porphyrias with cutaneous manifestations
such as porphyria cutanea tarda and hepatoerythropoietic porphyria. Each section will
cover disease prevalence, clinical manifestations, and current therapies, including
strategies to manage symptoms. Finally, we review new and emerging treatment modalities,
including gene therapy through use of adeno-associated vectors and chaperone therapies
such as lipid nanoparticle and small interfering RNA-based therapeutics.
Keywords
acute intermittent porphyria - hereditary coproporphyria - variegate porphyria - porphyria
cutanea tarda - hepatoerythropoietic porphyria
