Role of orthotopic liver transplant in the treatment of homozygous familial hypercholesterolemia

Rev Esp Enferm Dig. 2000 Sep;92(9):601-8.
[Article in English, Spanish]


Homozygous familial hypercholesterolemia is an inherited metabolic disease that leads to decreased catabolism of low-density lipoprotein cholesterol. As a result coronary artery disease ensues by the first or second decade. Because most low-density lipoprotein receptors (50-75%) are located in the liver, liver transplantation has been introduced as a therapeutic option in this disorder.

Aims: To report our experience in the treatment of homozygous familial hypercholesterolemia with ortothopic liver transplantation. We evaluated metabolic results and patient survival.

Method: We treated two affected siblings. One of them received a sequenced heart-liver transplantation because of cardiac failure due to severe coronary disease.

Results: The operative and postoperative course was favourable in both patients, with a decrease in cholesterol levels to normal values. Four years later both were alive and both had normal liver and heart functions. Neither patient needed cholesterol-lowering drugs, and the disease had not progressed.

Conclusions: As shown by our results and those reported by others, liver transplantation is the treatment of choice for homozygous familial hypercholesterolemia until gene therapy becomes a viable option. Transplantation should be done before of cardiovascular complications develop.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Female
  • Homozygote
  • Humans
  • Hyperlipoproteinemia Type II / genetics
  • Hyperlipoproteinemia Type II / surgery*
  • Liver Transplantation*
  • Male