Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report.
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.
Yoo
Dong Jun
DJ
Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Lee
Han Chu
HC
Yu
Eunsil
E
Jin
Young Joo
YJ
Shim
Ju Hyun
JH
Kim
Kang Mo
KM
Lim
Young Suk
YS
Chung
Young Hwa
YH
Lee
Yung Sang
YS
Suh
Dong Jin
DJ
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
D011524:Protoporphyrins; D002792:Cholestyramine Resin; D005294:Ferrochelatase; D001663:Bilirubin