Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Clin Mol Hepatol. 2012 Dec;18(4):411-5. doi: 10.3350/cmh.2012.18.4.411. Epub 2012 Dec 21.
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood, erythrocytes, and tissues, and cutaneous manifestations of photosensitivity, all resulting from abnormalities in ferrochelatase (FECH) activity due to mutations in the FECH gene. Protoporphyrin is excreted by the liver, and excess protoporphyrin leads to cholelithiasis with obstructive episodes and chronic liver disease, finally progressing to liver cirrhosis. Patients with end-stage EPP-associated liver disease require liver transplantation. We describe here a 31-year-old male patient with EPP who experienced acute-on-chronic liver failure and underwent deceased-donor liver transplantation. Surgical and postoperative care included specific shielding from exposure to ultraviolet radiation to prevent photosensitivity-associated adverse effects. The patient recovered uneventfully and was doing well 24 months after transplantation. Future prevention and treatment of liver disease are discussed in detail.
红细胞生成性原卟啉症（EPP）是一种血红素代谢途径的遗传性疾病，其特征是原卟啉在血液、红细胞和组织中蓄积，以及皮肤对光敏感的表现，所有这些都是由于 FECH 基因的突变导致亚铁螯合酶（FECH）活性异常所致。原卟啉由肝脏排泄，过量的原卟啉会导致胆石症伴有阻塞性发作和慢性肝病，最终进展为肝硬化。患有终末期 EPP 相关肝病的患者需要进行肝移植。我们在此描述了一位 31 岁的男性 EPP 患者，他患有急性加重的慢性肝衰竭，并接受了已故供体肝移植。手术和术后护理包括对紫外线辐射的特殊屏蔽，以防止与光敏感相关的不良反应。患者术后恢复顺利，移植后 24 个月情况良好。详细讨论了未来对肝病的预防和治疗。
