title: Familial hypercholesterolemia: present and future management.
abstract: Patients suffering from familial hypercholesterolemia (FH) are characterized by increased plasma levels of low-density lipoprotein cholesterol (LDL-C) levels and are at increased risk for premature cardiovascular disease (CVD). Current guidelines emphasize the need to aggressively lower LDL-C in FH patients, and statins are the cornerstone in the current regimen. However, additional therapies are eagerly awaited, especially for those patients not tolerating statin therapy or not reaching the goals for therapy. Our understanding of LDL metabolism has improved over the last years and an increasing number of potential novel targets for therapy have been recently identified. Apart from novel targets, we have also been confronted with novel modalities of treatment, such as mRNA antisense therapy. Some of these emerging therapies have proven to be effective in lowering plasma LDL-C levels and are as such expected to have beneficial effects on CVD. Hopefully, they will enrich our armamentarium against the severe dyslipidemia observed in FH patients in the not too distant future.
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: B
authors.initials: B
authors.lastname: Sjouke
authors.forename: D M
authors.initials: DM
authors.lastname: Kusters
authors.forename: J J P
authors.initials: JJ
authors.lastname: Kastelein
authors.forename: G K
authors.initials: GK
authors.lastname: Hovingh
mesh_terms: D000924:Anticholesteremic Agents / Q000494:pharmacology* / Q000627:therapeutic use*; D002318:Cardiovascular Diseases / Q000378:metabolism / Q000517:prevention & control*; D002352:Carrier Proteins / Q000037:antagonists & inhibitors; D053480:Cholesterol Ester Transfer Proteins / Q000037:antagonists & inhibitors; D005260:Female; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use*; D006937:Hypercholesterolemia / Q000188:drug therapy* / Q000378:metabolism; D008297:Male; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012307:Risk Factors; D040242:Risk Reduction Behavior; D012697:Serine Endopeptidases / Q000187:drug effects / Q000378:metabolism; D013963:Thyroid Hormones / Q000819:agonists; D016896:Treatment Outcome
chemical_list: D000924:Anticholesteremic Agents; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D013963:Thyroid Hormones; C106092:microsomal triglyceride transfer protein; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases