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: Dong Jun Yoo, Han Chu Lee, Eunsil Yu, Young Joo Jin, Ju Hyun Shim, Kang Mo Kim, Young Suk Lim, Young Hwa Chung, Yung Sang Lee, Dong Jin Suh
• Journal: The Korean journal of hepatology (Korean J Hepatol) Vol. 16 Issue 1 Pg. 83-8 (Mar 2010) ISSN: 1738-222X [Print] Korea (South)
• PMID: 20375647 (Publication Type: Case Reports, Journal Article)

Chemical References

• Protoporphyrins
• Cholestyramine Resin
• Ferrochelatase
• Bilirubin

Topics

• Bilirubin (blood)
• Cholestyramine Resin (therapeutic use)
• Edema (complications)
• Erythema (complications)
• Ferrochelatase (genetics, metabolism)
• Humans
• Liver Diseases (complications, diagnosis, pathology)
• Male
• Protoporphyria, Erythropoietic (complications, diagnosis, drug therapy)
• Protoporphyrins (metabolism)
• Young Adult