Familial hypercholesterolemia treatments: Guidelines and new therapies. (October 2018)

• Record Type: Journal Article
• Authors: Raal, Frederick J.; Hovingh, G. Kees; Catapano, Alberico L.
• Is Part Of: Atherosclerosis. Volume 277(2018)
• Page Start: 483
• Page End: 492
• Publication Date: 2018-10
• Subjects: Familial hypercholesterolemia -- Low density lipoprotein receptor -- Lipid-lowering drugs -- Guidelines; Arteriosclerosis -- Periodicals; Electronic journals; 616.136
• DOI: 10.1016/j.atherosclerosis.2018.06.859
• Languages: English
• ISSNs: 0021-9150

Abstract

Abstract: Familial hypercholesterolemia (FH) is a genetic disorder resulting from mutations in genes encoding proteins involved in the metabolism of low density lipoproteins (LDL) and characterized by premature cardiovascular disease due to the exposure to high levels of LDL-cholesterol (LDL-C) from birth. Thus, the early identification of FH subjects, followed by appropriate treatment is essential to prevent or at least delay the onset of cardiovascular events. However, FH is largely underdiagnosed; in addition, FH patients are frequently not adequately treated, despite the availability of several pharmacological therapies to significantly reduce LDL-C levels. Current guidelines recommend LDL-C targets for FH (either heterozygotes [HeFH] or homozygotes [HoFH]) <100 mg/dL (<2.6 mmol/L) for adults or <70 mg/dL (<1.8 mmol/L) for adults with CHD or diabetes, and <135 mg/dL (<3.5 mmol/L) for children. With the pharmacological options now available, which include statins as a first approach, ezetimibe, and the recently approved monoclonal antibodies targeting PCSK9, the guideline recommended LDL-C target levels can be achieved in the majority of heterozygous FH subjects, while for the most severe forms of homozygous FH, the addition of therapies such as lomitapide either with or without apheresis may be required. Highlights: Familial hypercholesterolemia (FH) is underdiagnosed and undertreated. Current guidelines clearly indicate LDL-C goal for FH subjects. Combination of available lipid-lowering therapies improves the management of FH. Novel emerging therapies for FH are currently under development.