Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report

Abstract

Erythropoietic protoporphyria (EPP) is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase (FECH), resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues. Here, we report a patient with photosensitive dermatitis and acute icteric hepatitis caused by EPP, whose clinical and biochemical results successfully improved following 2-month treatment with glucose load, ursodeoxycholic acid capsules, and cholestyramine powder. This case provides a reference for a combination therapy strategy for patients with liver and skin injury caused by EPP.

Keywords

• Erythropoietic protoporphyria (EPP)
• Inherited disease
• Photosensitive dermatitis
• Jaundice
• Ferrochelatase (FECH)
• Liver injury