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Liver disease in erythropoietic protoporphyria: emerging insights and their implications for management
  1. Alexander Vincent Anstey (alex.anstey{at}gwent.wales.nhs.uk)
  1. Cardiff University, United Kingdom
    1. Richard J Hift (rjh{at}liver.uct.ac.za)
    1. University of Cape Town, South Africa

      Abstract

      Erythropoietic protoporphyria (EPP; MIM # 177000) is a rare disorder of heme biosynthesis caused by decreased activity of the enzyme ferrochelatase (FECH; EC 4.99.1.1). Relative deficiency in FECH, which catalyses the incorporation of iron into protoporphyrin IX to produce haem, leads to accumulation of protoporphyrin IX in red blood cells. Protoporphyrin IX is a potent skin photosensitizer which, in the presence of bright visible light and oxygen, produces a severe burning sensation in sun-exposed skin within minutes of sun exposure. Onset of symptoms in EPP is typically in early childhood, with persistence throughout life. Protoporphyrin IX is potentially hepatotoxic, and a subset of patients with EPP develop significant liver disease. This may progress rapidly, culminating in cirrhosis or liver failure, which, in the absence of liver transplantation, may be fatal. This paper reviews the literature on liver disease in EPP. Treatment strategies for worsening liver function are reviewed and recommendations for liver biopsy are made.

      • erythropoietic protoporphyria
      • liver disease
      • liver failure
      • liver transplantation
      • photosensitivity

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