Liver transplantation for the treatment of homozygous familial hypercholesterolaemia in an era of emerging lipid-lowering therapies

Intern Med J. 2014 Jun;44(6):601-4. doi: 10.1111/imj.12444.

Abstract

Homozygous familial hypercholesterolaemia (FH) causes severe premature coronary artery disease because of very high levels of low density lipoprotein (LDL)-cholesterol. Standard lipid-lowering drugs and LDL-apheresis may not be sufficiently effective. Liver transplantation replaces defective LDL receptors and vastly improves the lipid profile, and we present the first report of an Australian adult to receive this treatment. Emerging drug treatments for FH may be alternatives to LDL-apheresis and transplantation, but long-term safety and efficacy data are lacking for all of these options.

Keywords: LDL-apheresis; familial hypercholesterolaemia; liver transplantation; lomitapide; mipomersen.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Atorvastatin
  • Azetidines / administration & dosage
  • Azetidines / therapeutic use
  • Blood Component Removal
  • Cholesterol, LDL / blood
  • Combined Modality Therapy
  • Consanguinity
  • Coronary Artery Bypass
  • Coronary Disease / genetics
  • Coronary Disease / surgery
  • Drug Therapy, Combination
  • Ezetimibe
  • Fenofibrate / administration & dosage
  • Fenofibrate / therapeutic use
  • Heart Valve Diseases / genetics
  • Heart Valve Diseases / surgery
  • Heart Valve Prosthesis Implantation
  • Heptanoic Acids / administration & dosage
  • Heptanoic Acids / therapeutic use
  • Homozygote
  • Humans
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / diet therapy
  • Hyperlipoproteinemia Type II / drug therapy*
  • Hyperlipoproteinemia Type II / surgery*
  • Hyperlipoproteinemia Type II / therapy
  • Hypolipidemic Agents / administration & dosage
  • Hypolipidemic Agents / therapeutic use*
  • Lipoproteins, LDL / blood
  • Liver Transplantation*
  • Male
  • Pyrroles / administration & dosage
  • Pyrroles / therapeutic use
  • Receptors, LDL / deficiency
  • Receptors, LDL / genetics

Substances

  • Azetidines
  • Cholesterol, LDL
  • Heptanoic Acids
  • Hypolipidemic Agents
  • Lipoproteins, LDL
  • Pyrroles
  • Receptors, LDL
  • Atorvastatin
  • Ezetimibe
  • Fenofibrate