title: Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria.
abstract: 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.
authors: Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors: Pyoung-Jae
authors: PJ
authors: Park
authors: Shin
authors: S
authors: Hwang
authors: Young-Il
authors: YI
authors: Choi
authors: Young-Dong
authors: YD
authors: Yu
authors: Gil-Chun
authors: GC
authors: Park
authors: Sung-Won
authors: SW
authors: Jung
authors: Sam-Youl
authors: SY
authors: Yoon
authors: Gi-Won
authors: GW
authors: Song
authors: Tae-Yong
authors: TY
authors: Ha
authors: Sung-Gyu
authors: SG
authors: Lee
mesh_terms: D000208:Acute Disease; D000328:Adult; D058625:End Stage Liver Disease / Q000209:etiology / Q000473:pathology / Q000628:therapy*; D005294:Ferrochelatase / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008103:Liver Cirrhosis / Q000175:diagnosis; D016031:Liver Transplantation; D008297:Male; D009154:Mutation; D046351:Protoporphyria, Erythropoietic / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
chemical_list: D005294:Ferrochelatase
keywords: Acute-on-chronic liver failure; Erythropoietic protoporphyria; Liver transplantation