Key points are not available for this paper at this time.
INTRODUCTION: Homozygous familial hypercholesterolemia (HoFH) is a rare and life-threatening lipid disorder characterized by extremely elevated low-density lipoprotein-cholesterol (LDL-C) concentrations and premature atherosclerotic cardiovascular disease (CVD). Conventional lipid-lowering agents remain insufficient in managing this disease, which emphasize the unmet medical need for potential therapies capable of lowering LDL-C and decreasing CVD risk in this patient population. AREAS COVERED: Novel LDL receptor (LDLR) independent drugs have been recently approved or are in development for the treatment of HoFH, including lomitapide (Juxtapid®). This oral microsomal triglyceride transfer protein (MTP) inhibitor was approved in 2012 in several countries as an adjunct to a low-fat diet and other lipid-lowering drugs with or without LDL apheresis to treat patients with HoFH. This review summarizes key safety and efficacy data of lomitapide from clinical trials and 'real-life' experience. EXPERT OPINION: While lomitapide is an interesting therapy for treating HoFH, long-term safety, as well as cardiovascular outcome data, are yet to be provided. Precision medicine has recently contributed to the development of several agents designed to address the unmet medical need of HoFH. However, combining safety, efficacy, accessibility, and affordability in a single therapy constitutes very challenging individual and societal paradigms in HoFH treatment.
Khoury et al. (Thu,) studied this question.