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Erythropoietic protoporphyria with severe cholestasis
S Yamamoto1, Y Kitano, T Eimoto
1Department of Internal Medicine, Kawasaki Medical School, Kurashiki.
Internal Medicine (Tokyo, Japan)
|December 1, 1994
Summary
This report details the oldest known case of erythropoietic protoporphyria (EPP) with liver dysfunction in a 74-year-old woman. The patient presented with photosensitivity and ultimately succumbed to hepatic failure, highlighting EPP
Area of Science:
- Hepatology
- Genetics
- Dermatology
Background:
- Erythropoietic protoporphyria (EPP) is a rare genetic disorder.
- EPP is characterized by photosensitivity and porphyrin accumulation.
- Hepatic dysfunction is a known, severe complication of EPP.
Observation:
- A 74-year-old female EPP patient with photosensitivity for two years.
- Clinical presentation included hepatosplenomegaly and facial erosions.
- Laboratory findings revealed elevated bilirubin and biliary enzymes.
Findings:
- Liver biopsy showed fibrosis and bile canaliculi dilatation with orange pigment.
- Markedly elevated erythrocyte and fecal protoporphyrin levels were confirmed.
- The patient developed hepatic failure and died at 74 years old.
Implications:
- This case represents the oldest reported EPP patient with liver dysfunction.
- Highlights the potential for severe hepatic complications in EPP.
- Emphasizes the importance of monitoring liver function in EPP patients.