Familial hypercholesterolemia treatments: Guidelines and new therapies.
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.
['Raal|Frederick J|FJ|', 'Hovingh|G Kees|GK|', 'Catapano|Alberico L|AL|']
D000924:Anticholesteremic Agents D001562:Benzimidazoles D015415:Biomarkers D001781:Blood Component Removal D008078:Cholesterol, LDL D015536:Down-Regulation D004359:Drug Therapy, Combination D000069438:Ezetimibe D020022:Genetic Predisposition to Disease D006801:Humans D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors D006938:Hyperlipoproteinemia Type II D000091362:PCSK9 Inhibitors D010641:Phenotype D017410:Practice Guidelines as Topic D000071449:Proprotein Convertase 9 D015842:Serine Proteinase Inhibitors D016896:Treatment Outcome
Familial hypercholesterolemia Guidelines Lipid-lowering drugs Low density lipoprotein receptor