Erythropoietic protoporphyria with fatal liver failure

J Gastroenterol. 1999 Jun;34(3):405-9. doi: 10.1007/s005350050284.


A 33-year-old woman with a history of photosensitivity, persistent abdominal pain, and liver dysfunction was admitted to our department because of abdominal pain and progression of liver dysfunction. On admission, levels of protoporphyrin and coproporphyrin within erythrocytes were markedly increased. Autofluorescent erythrocytes were also detected, leading to a diagnosis of erythropoietic protoporphyria. A liver biopsy specimen revealed cirrhosis with dark brown granules filling hepatocytes, bile canaliculi, and bile ductules. Transfusion of washed erythrocytes, hemodialysis, and administration of cholestyramine and beta-carotene transiently improved levels of porphyrins and liver function. The patient died of rupture of esophageal varices followed by multiple organ failure. However, the treatments were believed to have extended survival.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Autopsy
  • Biopsy, Needle
  • Disease Progression
  • Drug Therapy, Combination
  • Esophageal and Gastric Varices / etiology
  • Fatal Outcome
  • Female
  • Humans
  • Liver Cirrhosis / etiology*
  • Liver Cirrhosis / pathology
  • Liver Cirrhosis / therapy
  • Liver Failure / etiology*
  • Liver Failure / pathology
  • Liver Function Tests
  • Multiple Organ Failure / etiology*
  • Porphyria, Hepatoerythropoietic / complications*
  • Porphyria, Hepatoerythropoietic / pathology
  • Porphyria, Hepatoerythropoietic / therapy*
  • Renal Dialysis
  • Rupture, Spontaneous