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Acute Intermittent Porphyria: Current Perspectives And Case Presentation

Authors Spiritos Z, Salvador S, Mosquera D, Wilder J

Received 4 April 2019

Accepted for publication 14 September 2019

Published 16 December 2019 Volume 2019:15 Pages 1443—1451

DOI https://doi.org/10.2147/TCRM.S180161

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Professor Garry Walsh


Zachary Spiritos,1 Shakirat Salvador,2 Diana Mosquera,3 Julius Wilder1,4

1Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA; 2Department of Medicine, Division of Gastroenterology, Vanderbilt University Medical Center, Nashville, TN, USA; 3Department of Medicine, Duke University School of Medicine, Durham, NC, USA; 4Department of Medicine, Duke Clinical Research Institute, Durham, NC, USA

Correspondence: Julius Wilder
Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA
Tel +1 919 668 3063
Fax +1 919 668 7164
Email julius.wilder@duke.edu

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 porphyria, acute intermittent porphyria, hepatic porphyria
 

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