title: Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report.
abstract: Erythropoietic protoporphyria (EPP) is a rare disorder of heme biosynthesis caused by mutations in the gene encoding the enzyme ferrochelatase. In EPP, deficient ferrochelatase activity leads to the excessive production and biliary excretion of protoporphyrin (PP). The major clinical features of EPP are photosensitivity and hepatobiliary disease that may progress to severe liver disease, that are caused by the toxicity of PP. EPP-related liver disease has been treated medically or surgically including liver transplantation. We described a 20-year-old male with severe liver disease who was diagnosed with EPP based on clinical and laboratory findings. He was treated with cholestyramine resin. Six months after the treatment, he was doing well without any abdominal pain or photosensitivity.
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Dong Jun
authors.initials: DJ
authors.lastname: Yoo
authors.forename: Han Chu
authors.initials: HC
authors.lastname: Lee
authors.forename: Eunsil
authors.initials: E
authors.lastname: Yu
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Jin
authors.forename: Ju Hyun
authors.initials: JH
authors.lastname: Shim
authors.forename: Kang Mo
authors.initials: KM
authors.lastname: Kim
authors.forename: Young Suk
authors.initials: YS
authors.lastname: Lim
authors.forename: Young Hwa
authors.initials: YH
authors.lastname: Chung
authors.forename: Yung Sang
authors.initials: YS
authors.lastname: Lee
authors.forename: Dong Jin
authors.initials: DJ
authors.lastname: Suh
mesh_terms: D001663:Bilirubin / Q000097:blood; D002792:Cholestyramine Resin / Q000627:therapeutic use*; D004487:Edema / Q000150:complications; D004890:Erythema / Q000150:complications; D005294:Ferrochelatase / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008107:Liver Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D046351:Protoporphyria, Erythropoietic / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D011524:Protoporphyrins / Q000378:metabolism; D055815:Young Adult
chemical_list: D011524:Protoporphyrins; D002792:Cholestyramine Resin; D005294:Ferrochelatase; D001663:Bilirubin