Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria. 2012

Pyoung-Jae Park, and Shin Hwang, and Young-Il Choi, and Young-Dong Yu, and Gil-Chun Park, and Sung-Won Jung, and Sam-Youl Yoon, and Gi-Won Song, and Tae-Yong Ha, and Sung-Gyu Lee
Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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.

UI MeSH Term Description Entries
D008103 Liver Cirrhosis Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. Cirrhosis, Liver,Fibrosis, Liver,Hepatic Cirrhosis,Liver Fibrosis,Cirrhosis, Hepatic
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D005294 Ferrochelatase A mitochondrial enzyme found in a wide variety of cells and tissues. It is the final enzyme in the 8-enzyme biosynthetic pathway of HEME. Ferrochelatase catalyzes ferrous insertion into protoporphyrin IX to form protoheme or heme. Deficiency in this enzyme results in ERYTHROPOIETIC PROTOPORPHYRIA. Heme Synthetase,Porphyrin-Metal Chelatase,Protoheme Ferro-Lyase,Zinc Chelatase,Chelatase, Porphyrin-Metal,Chelatase, Zinc,Ferro-Lyase, Protoheme,Porphyrin Metal Chelatase,Protoheme Ferro Lyase,Synthetase, Heme
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000208 Acute Disease Disease having a short and relatively severe course. Acute Diseases,Disease, Acute,Diseases, Acute
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D016031 Liver Transplantation The transference of a part of or an entire liver from one human or animal to another. Grafting, Liver,Hepatic Transplantation,Liver Transplant,Transplantation, Hepatic,Transplantation, Liver,Hepatic Transplantations,Liver Grafting,Liver Transplantations,Liver Transplants,Transplant, Liver
D046351 Protoporphyria, Erythropoietic An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. Erythropoietic Protoporphyria,Erythrohepatic Protoporphyria,Ferrochelatase Deficiency,Heme Synthetase Deficiency,Deficiencies, Ferrochelatase,Deficiencies, Heme Synthetase,Deficiency, Ferrochelatase,Deficiency, Heme Synthetase,Erythropoietic Protoporphyrias,Ferrochelatase Deficiencies,Heme Synthetase Deficiencies,Protoporphyrias, Erythropoietic,Synthetase Deficiencies, Heme,Synthetase Deficiency, Heme
D058625 End Stage Liver Disease Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed. Chronic Liver Failure,Liver Failure, Chronic,Chronic Liver Failures,Failure, Chronic Liver,Failures, Chronic Liver,Liver Failures, Chronic

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