Journal
ATHEROSCLEROSIS
Volume 277, Issue -, Pages 483-492Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.atherosclerosis.2018.06.859
Keywords
Familial hypercholesterolemia; Low density lipoprotein receptor; Lipid-lowering drugs; Guidelines
Funding
- Fondazione Cariplo [2015-0524, 2015-0564]
- H2020 REPROGRAM [PHC-03-2015/667837-2]
- ERA-NET [ER-2017-2364981]
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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 <135mg/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. (c) 2018 Elsevier B.V. All rights reserved.
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