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

红细胞生成性原卟啉病所致黄疸性肝炎的诊断和治疗:病例报告

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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.

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