The acute hepatic porphyrias: Current status and future challenges

Marko Siegesmund, Anne Moniek van Tuyll van Serooskerken, Pamela Poblete-Gutierrez, Jorge Frank*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

The porphyrias are predominantly inherited metabolic disorders which result from a specific deficiency of one of the eight enzymes along the pathway of haem biosynthesis Historically they have been classified Into hepatic and erythropoietic forms based on the primary site of expression of the prevailing dysfunctional enzyme From a clinical point of view however It is more convenient to subdivide them into acute and non-acute porphyria thereby primarily considering the potential occurrence of life-threatening acute neurovisceral attacks Unrecognised or untreated such an acute porphyric attack is associated with a significant mortality of up to 10% The acute hepatic porphyrias comprise acute intermittent porphyria variegate porphyria hereditary coproporphyria and delta-aminolevulinic acid dehydratase deficiency porphyria Making a precise diagnosis may be difficult because the different types of porphyrias may show overlapping clinical and biochemical characteristics To date the therapeutic possibilities are limited and mainly symptomatic In this overview we report on what is currently known about pathogenesis clinic diagnostics and therapy of the acute hepatic porphyrias We further point out actual and future challenges in the management of these diseases
Original languageEnglish
Pages (from-to)593-605
JournalBest Practice & Research in Clinical Gastroenterology
Volume24
Issue number5
DOIs
Publication statusPublished - Oct 2010

Keywords

  • Acute hepatic porphyria
  • Acute intermittent porphyria
  • delta-Aminolevulinic acid dehydratase deficiency porphyria
  • Haem biosynthesis
  • Hereditary coproporphyria
  • Porphyria
  • Variegate porphyria

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