Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia

Pediatr Transplant. 2011 May;15(3):281-4. doi: 10.1111/j.1399-3046.2010.01469.x. Epub 2011 Jan 17.

Abstract

FH is a hereditary inherited disorder of cholesterol metabolism. Homozygous form of the disease associates severe form of atherosclerotic disease. Clinicians have been tried to inhibit the progression of the homozygous FH with medical and surgical treatment. We here present three siblings with homozygous FH who were successfully treated with liver transplantation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Cholesterol / metabolism
  • Cholesterol, LDL / metabolism
  • Family Health
  • Female
  • Homozygote
  • Humans
  • Hyperlipoproteinemia Type II / genetics
  • Hyperlipoproteinemia Type II / therapy*
  • Lipids / chemistry
  • Liver / surgery
  • Liver Transplantation / methods*
  • Male
  • Mutation
  • Time Factors
  • Treatment Outcome

Substances

  • Cholesterol, LDL
  • Lipids
  • Cholesterol