title: Clinical experience of lomitapide therapy in patients with homozygous familial hypercholesterolaemia.
abstract: 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.
authors.affiliation: Institute for Translational Medicine and Therapeutics, and Department of Medicine, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA. Electronic address: mcuchel@mail.med.upenn.edu.
authors.forename: Marina
authors.initials: M
authors.lastname: Cuchel
authors.affiliation: University of Cape Town, Cape Town, South Africa; Medical Research Council of South Africa, Cape Heart Group, Cape Town, South Africa.
authors.forename: Dirk J
authors.initials: DJ
authors.lastname: Blom
authors.affiliation: Università di Palermo, Palermo, Italy.
authors.forename: Maurizio R
authors.initials: MR
authors.lastname: Averna
mesh_terms: D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D001562:Benzimidazoles / Q000627:therapeutic use*; D008078:Cholesterol, LDL / Q000097:blood / Q000187:drug effects; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000188:drug therapy* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000924:Anticholesteremic Agents; C473731:BMS201038; D001562:Benzimidazoles; D008078:Cholesterol, LDL
keywords: Apheresis; Homozygous familial hypercholesterolaemia; LDL-cholesterol; Liver function tests; Lomitapide; Low fat diet; Microsomal transfer protein inhibitor