Use of microsomal triglyceride transfer protein inhibitors in patients with homozygous familial hypercholesterolemia: translating clinical trial experience into clinical practice

Rev Cardiovasc Med. 2014;15(1):1-10. doi: 10.3909/ricm0702.

Abstract

Homozygous familial hypercholesterolemia (HoFH) is associated with severe hypercholesterolemia and premature cardiovascular morbidity and mortality. The most frequent cause of HoFH is loss of function mutations in the gene for the low-density lipoprotein receptor, resulting in reduced clearance of low-density lipoprotein (LDL) cholesterol from the circulation. Patients with HoFH have attenuated responsiveness to lipidlowering therapies such as statins, cholesterol absorption inhibition, and bile acid binding resins because of impaired LDL receptor expression. Lomitapide is a novel microsomal triglyceride transfer protein inhibitor that does not depend on the ability to upregulate LDL receptors on the surface of hepatocytes. Lomitapide reduces production of apolipoprotein B-containing lipoproteins, significantly reduces serum levels of LDL cholesterol, and is approved for use in patients with HoFH in the United States and the European Union.

Publication types

  • Review

MeSH terms

  • Anticholesteremic Agents / adverse effects
  • Anticholesteremic Agents / therapeutic use*
  • Benzimidazoles / adverse effects
  • Benzimidazoles / therapeutic use*
  • Biomarkers / blood
  • Carrier Proteins / antagonists & inhibitors*
  • Carrier Proteins / metabolism
  • Cholesterol, LDL / blood
  • Clinical Trials as Topic
  • Genetic Predisposition to Disease
  • Homozygote*
  • Humans
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / drug therapy*
  • Hyperlipoproteinemia Type II / genetics
  • Liver / drug effects*
  • Liver / metabolism
  • Mutation
  • Receptors, LDL / blood
  • Receptors, LDL / genetics*
  • Treatment Outcome

Substances

  • Anticholesteremic Agents
  • BMS201038
  • Benzimidazoles
  • Biomarkers
  • Carrier Proteins
  • Cholesterol, LDL
  • LDLR protein, human
  • Receptors, LDL
  • microsomal triglyceride transfer protein