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Protoporphyria

T M Cox1, G J Alexander, R P Sarkany

  • 1Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.

Seminars in Liver Disease
|March 28, 1998
PubMed
Summary
This summary is machine-generated.

Human protoporphyria, caused by ferrochelatase gene mutations, leads to excess protoporphyrin IX. This review emphasizes its severe hepatic sequelae, including cholestasis and liver disease requiring transplantation.

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Area of Science:

  • Biochemistry
  • Genetics
  • Hepatology

Background:

  • Human protoporphyria stems from ferrochelatase gene mutations, causing protoporphyrin IX overproduction.
  • Photosensitivity is a hallmark, but hepatic complications like cholestatic injury and gallstones are significant.
  • Progressive liver disease necessitating transplantation affects at least 30 reported patients.

Purpose of the Study:

  • To review the pathogenesis of protoporphyria.
  • To discuss the hepatic sequelae of protoporphyria.
  • To explore contemporary therapeutic strategies for protoporphyria.

Main Methods:

  • Literature review of protoporphyria, focusing on genetic causes.
  • Analysis of clinical manifestations, particularly hepatic complications.

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  • Examination of outcomes following liver transplantation.

    • Main Results:

    • Ferrochelatase deficiency leads to protoporphyrin IX accumulation, primarily in red blood cells.
    • Hepatic clearance of protoporphyrin IX can cause cholestasis, gallstones, and progressive liver disease.
    • Liver transplantation is a viable option for end-stage liver disease, with survival data presented.

    Conclusions:

    • Protoporphyria management requires a focus on preventing and treating severe hepatic complications.
    • Understanding the pathogenesis is crucial for developing targeted therapies.
    • Liver transplantation offers a life-saving intervention for advanced protoporphyria-related liver disease.