Liver transplant combined with heart transplant in severe heterozygous hypercholesterolemia: report of the first case and review of the literature

Transplant Proc. 2005 Jun;37(5):2250-2. doi: 10.1016/j.transproceed.2005.03.037.

Abstract

Familial hypercholesterolemia (FH) is a dominant inherited disease of low-density lipoprotein (LDL) metabolism caused by mutations of LDL receptors mainly located in the liver. This metabolic disorder is responsible for severe cardiovascular disease, from coronary lesions to chronic heart failure (CHF). Liver transplantation in homozygous FH provides the missing functional LDL receptors and thus partially restores LDL receptor activity to more than 50% of normal. Combined heart and liver transplantation was successfully performed in a homozygous FH patient with end-stage heart failure. Herein we report our experience with a heterozygous male patient with terminal CHF, and review data from the literature on short- and long-term results of such procedures.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Anticholesteremic Agents / therapeutic use
  • Cholesterol, LDL / blood
  • Genetic Carrier Screening
  • Heart Transplantation*
  • Humans
  • Hyperlipoproteinemia Type II / drug therapy
  • Hyperlipoproteinemia Type II / surgery*
  • Liver Transplantation*
  • Male

Substances

  • Anticholesteremic Agents
  • Cholesterol, LDL