Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report

摘要

Erythropoietic protoporphyria (EPP) is an extremely rare disease which is often unrecognized as diagnosis. In the recent article Lui et al describe a patient with a new diagnosis of EPP with severe liver injury. Approximately 5%-20% of patients with EPP develop liver manifestations. The most severe complication of EPP is an hepatic crisis, which is a medical emergency requiring urgent treatment. Intensive treatment should consist of (exchange) transfusions and preferably in a center that performs liver transplantations.