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Semin Liver Dis
DOI: 10.1055/s-0044-1787076
Review Article

Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs

Oluwashanu Balogun
1   Department of Experimental Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania
,
Kari Nejak-Bowen
1   Department of Experimental Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania
2   Pittsburgh Liver Institute, University of Pittsburgh, Pittsburgh, Pennsylvania
› Author Affiliations Funding This study was funded by NIH grant 1R01DK124412 to K.N-B.
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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

Supplementary Material



Publication History

Article published online:
17 May 2024

© 2024. Thieme. All rights reserved.

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