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

被引:6
作者
Wensink, Debby [1 ]
Wagenmakers, Margreet A. E. M. [1 ]
Wilson, J. H. Paul [1 ]
Langendonk, Janneke G. [1 ]
机构
[1] Erasmus MC, Dept Internal Med, Ctr Lysosomal & Metab Dis, Porphyria Ctr Rotterdam, NL-3015 GD Rotterdam, Netherlands
关键词
Erythropoietic protoporphyria; Liver disease; Blood transfusion; Protoporphyrin IX; Treatment; DISEASE;
D O I
10.3748/wjg.v25.i30.4292
中图分类号
R57 [消化系及腹部疾病];
学科分类号
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.
引用
收藏
页码:4292 / 4293
页数:2
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