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Review
. 2019 Dec 16:15:1443-1451.
doi: 10.2147/TCRM.S180161. eCollection 2019.

Acute Intermittent Porphyria: Current Perspectives And Case Presentation

Zachary Spiritos  1 , Shakirat Salvador  2 , Diana Mosquera  3 , Julius Wilder  1   4
Affiliations
Review

Acute Intermittent Porphyria: Current Perspectives And Case Presentation

Zachary Spiritos et al. Ther Clin Risk Manag. .

Abstract

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.

Keywords: acute intermittent porphyria; acute porphyria; hepatic porphyria.

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Conflict of interest statement

The authors report no conflicts of interest in this work.

Figures

Figure 1
Figure 1
Haem synthesis pathway. Note: Adapted from Stein PE, Badminton MN, Rees DC. Update review of the acute porphyrias. Br J Haematol. 2017;176(4):527–538. © 2016 John Wiley & Sons Ltd.
See this image and copyright information in PMC

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