MTP gene variants and response to lomitapide in patients with homozygous familial hypercholesterolemia

G.D. Kolovou, V. Kolovou, A. Papadopoulou, Gerald Watts

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18 Citations (Scopus)


© 2016, Japan Atherosclerosis Society. All rights reserved.Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder, which leads to premature cardiovascular diseases. Microsomal triglyceride transport protein (MTP) inhibitors, such as lomitapide, offer a new therapeutic approach for treating these patients. We evaluated the lipid lowering (LL) efficacy of lomitapide according to several gene variants in MTP. Four clinically and/ or molecularly defined HoFH patients were treated with lomitapide in addition to conventional high intensity LL therapy and regular lipoprotein apheresis. Two patients responded to the therapy, with a significant reduction of LDL cholesterol (LDL-C>50%, hyper-responders). Sequencing of all exonic and intronic flanking regions of the MTP gene in all patients revealed 36 different variants. The hyper-responders to lomitapide shared six common variants: rs17533489, rs79194015, rs745075, rs41275715, rs1491246, and rs17533517, which were not seen in hypo-responders (reduction in LDL-C
Original languageEnglish
Pages (from-to)878-883
Number of pages6
JournalJournal of Atherosclerosis and Thrombosis
Issue number7
Publication statusPublished - 2016


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