Porphyrias: Acute Manifestations

Akshata Moghe, Karl E. Anderson

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Acute porphyrias often present with severe and potentially life-threatening manifestations that require prompt diagnosis and treatment. Most notable in terms of emergent presentations are the neurovisceral attacks that occur in the four acute porphyrias (acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), ALA dehydratase porphyria (ADP)) and the rare “hepatic crises” in erythropoietic protoporphyria (EPP). Porphyria cutanea tarda (PCT) causes chronic blistering skin lesions but is not considered an emergent condition. Sensitive screening tests can rapidly diagnose these disorders and enable prompt initiation of specific and effective treatment. Specific therapies for the acute porphyrias are hemin and glucose loading. Protoporphyria hepatopathy may respond to medical therapy that includes plasmapheresis and hemin but often requires liver transplantation.

Original languageEnglish (US)
Title of host publicationContemporary Endocrinology
PublisherHumana Press Inc.
Pages239-256
Number of pages18
DOIs
StatePublished - 2021

Publication series

NameContemporary Endocrinology
ISSN (Print)2523-3785
ISSN (Electronic)2523-3793

Keywords

  • Acute porphyria
  • Erythropoietic protoporphyria
  • Hemin therapy
  • Porphyric neuropathy
  • Protoporphyric crisis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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