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Acute Hepatic Porphyria.

D Montgomery Bissell1, Bruce Wang1

  • 1Division of Gastroenterology, University of California, San Francisco, CA, USA.

Journal of Clinical and Translational Hepatology
|September 11, 2015
PubMed
Summary
This summary is machine-generated.

Porphyrias are genetic diseases caused by enzyme defects in heme synthesis, leading to precursor overproduction. Acute attacks, triggered by factors like medications, can cause severe pain and neurological symptoms.

Keywords:
Delta-aminolevulinic acidPorphobilinogenPorphyria

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Area of Science:

  • Biochemistry
  • Genetics
  • Hepatology

Background:

  • Porphyrias are a group of genetic diseases stemming from defects in heme synthesis enzymes.
  • These disorders are characterized by the overproduction of heme precursors, which can be neurotoxic or photosensitizing.
  • Acute porphyrias manifest with neurological symptoms, while cutaneous porphyrias present with skin issues, and some types exhibit both.

Purpose of the Study:

  • To summarize the pathophysiology, clinical presentation, and management of porphyrias.
  • To highlight the triggers and specific treatments for acute attacks.
  • To address current challenges in diagnosing and managing these rare diseases.

Main Methods:

  • Review of existing literature on porphyria pathophysiology and clinical manifestations.
  • Analysis of treatment strategies, including supportive care, intravenous hemin, and liver transplantation.
  • Discussion of diagnostic challenges and unmet needs in acute care settings.

Main Results:

  • Acute porphyrias involve overproduction of neurotoxic precursors like delta-aminolevulinic acid and porphobilinogen.
  • Triggers for acute attacks include medications and fasting; female predisposition is linked to ovarian physiology.
  • Intravenous hemin is the specific treatment, with liver transplantation offering resolution for severe cases.

Conclusions:

  • Effective management of acute porphyria involves prompt treatment of attacks and avoidance of triggers.
  • The lack of a rapid urine porphobilinogen test hinders urgent care.
  • Further research and improved diagnostic tools are needed for porphyria management.