Clinical experience of lomitapide therapy in patients with homozygous familial hypercholesterolaemia

Atheroscler Suppl. 2014 Sep;15(2):33-45. doi: 10.1016/j.atherosclerosissup.2014.07.005.


The microsomal triglyceride transfer protein (MTP) inhibitor lomitapide is a licenced adjunct to a low-fat diet and other lipid-lowering medication, with or without low-density lipoprotein apheresis, for the treatment of adults with homozygous familial hypercholesterolaemia (HoFH). In a recently published phase 3 study, patients with HoFH received lomitapide in addition to maximally tolerated lipid-lowering therapy. Treatment with lomitapide resulted in a mean approximate 50% reduction in LDL-C levels after 26 weeks compared with baseline levels (p < 0.0001). This decrease in LDL-C was maintained at Weeks 56 and 78 (44% [p < 0.0001] and 38% [p = 0.0001], respectively). This paper offers clinical perspectives based on selected case histories of patients participating in the phase 3 lomitapide study. These cases provide illustrative examples of the efficacy of lomitapide, with or without apheresis, and show that the effective management of adverse effects can enable patients to remain on effective treatment.

Keywords: Apheresis; Homozygous familial hypercholesterolaemia; LDL-cholesterol; Liver function tests; Lomitapide; Low fat diet; Microsomal transfer protein inhibitor.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Anticholesteremic Agents / therapeutic use*
  • Benzimidazoles / therapeutic use*
  • Cholesterol, LDL / blood
  • Cholesterol, LDL / drug effects
  • Female
  • Homozygote
  • Humans
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / drug therapy*
  • Hyperlipoproteinemia Type II / genetics
  • Male
  • Middle Aged
  • Treatment Outcome
  • Young Adult


  • Anticholesteremic Agents
  • BMS201038
  • Benzimidazoles
  • Cholesterol, LDL