Erythropoietic protoporphyria terminating in liver failure

Area of Science:

• Hepatology
• Biochemistry
• Genetics

Background:

• Erythropoietic protoporphyria (EPP) is a rare genetic disorder of heme biosynthesis.
• EPP is characterized by photosensitivity and can lead to severe liver complications.

Observation:

• A patient with EPP was monitored for 28 years, developing cholestatic jaundice and liver failure at age 38.
• During terminal illness, red blood cell (RBC) protoporphyrin levels increased significantly (350x upper limit of normal).
• Cutaneous photosensitivity did not worsen despite elevated RBC and serum protoporphyrin levels during the terminal phase.

Findings:

• Cholestatic jaundice and liver dysfunction progressed to fatal esophageal varices.
• Urine protoporphyrins and coproporphyrins were elevated, while stool porphyrins were moderately increased.
• Cholestyramine resin and vitamin E therapy transiently reduced RBC protoporphyrin levels.

Implications:

• This case underscores the potential for severe, progressive liver disease in EPP, independent of photosensitivity exacerbation.
• Understanding porphyrin metabolism and transport is crucial for managing EPP-related hepatotoxicity.
• Long-term monitoring and management strategies are essential for EPP patients at risk of liver failure.