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

Abstract

UNLABELLED:

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.

• Authors: J A Castilla Cabezas, P López-Cillero, J Jiménez, E Fraga, J M Arizón, J Briceño, G Solórzano, M De la Mata, C Pera
• Journal: Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva (Rev Esp Enferm Dig) Vol. 92 Issue 9 Pg. 601-8 (Sep 2000) ISSN: 1130-0108 [Print] Spain
• PMID: 11138242 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Child
• Female
• Homozygote
• Humans
• Hyperlipoproteinemia Type II (genetics, surgery)
• Liver Transplantation
• Male