title: Role of orthotopic liver transplant in the treatment of homozygous familial hypercholesterolemia.
abstract: 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.
  
  
  OBJECTIVE
  To report our experience in the treatment of homozygous familial hypercholesterolemia with ortothopic liver transplantation. We evaluated metabolic results and patient survival.
  
  
  METHODS
  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.affiliation: Liver Unit Transplantation, Hospital Universitario Reina Sofía, Córdoba, Spain. jacccg@teleline.es
authors.forename: J A
authors.initials: JA
authors.lastname: Castilla Cabezas
authors.forename: P
authors.initials: P
authors.lastname: López-Cillero
authors.forename: J
authors.initials: J
authors.lastname: Jiménez
authors.forename: E
authors.initials: E
authors.lastname: Fraga
authors.forename: J M
authors.initials: JM
authors.lastname: Arizón
authors.forename: J
authors.initials: J
authors.lastname: Briceño
authors.forename: G
authors.initials: G
authors.lastname: Solórzano
authors.forename: M
authors.initials: M
authors.lastname: De la Mata
authors.forename: C
authors.initials: C
authors.lastname: Pera
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics / Q000601:surgery*; D016031:Liver Transplantation; D008297:Male