Acute Intermittent Porphyria: Current Perspectives And Case Presentation.

Published

Journal Article (Review)

Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder characterized by a deficiency in heme biosynthesis. Heme biosynthesis occurs throughout the body, but it is most prominent in the erythroblastic system and liver. AIP is a hepatic porphyria whereby the liver is the source of toxic heme metabolites. Clinical manifestations of AIP result from a genetic mutation that leads to partial function of porphobiliogen deaminase (PBGD). This causes an accumulation of upstream, neurotoxic metabolites. Symptoms include but are not limited to peripheral neuropathies, autonomic neuropathies and psychiatric manifestations. AIP can be life threatening and clinical signs and symptoms are often heterogeneous and non-specific. Therefore, it is important to be able to recognize these patients to make a prudent diagnosis and offer appropriate therapy. Here, we review the epidemiology, pathophysiology, clinical presentation, diagnosis, and management of AIP including the role of liver transplantation.

Full Text

Duke Authors

Cited Authors

  • Spiritos, Z; Salvador, S; Mosquera, D; Wilder, J

Published Date

  • January 2019

Published In

Volume / Issue

  • 15 /

Start / End Page

  • 1443 - 1451

PubMed ID

  • 31908464

Pubmed Central ID

  • 31908464

Electronic International Standard Serial Number (EISSN)

  • 1178-203X

International Standard Serial Number (ISSN)

  • 1176-6336

Digital Object Identifier (DOI)

  • 10.2147/tcrm.s180161

Language

  • eng