title: Screening and treatment of familial hypercholesterolemia - Lessons from the past and opportunities for the future (based on the Anitschkow Lecture 2014).
abstract: In this review, we discuss the screening and treatment of familial hypercholesterolemia (FH), an autosomal dominant inherited disease, characterized by severely increased levels of low-density lipoprotein cholesterol (LDL-C) and increased risk for premature coronary heart disease (CHD). Genetic family based cascade screening for FH was shown to be cost-effective and a screening program with such an approach was carried out in the Netherlands from 1994 to 2014. Over 64,000 persons have participated in this program of whom 40.3% were found to carry an FH causing mutation. We will discuss the results of this screening program, as well as the scientific opportunities it has provided. Currently, statins and ezetimibe are the only registered LDL-C lowering treatment options for FH patients. Many of them do not attain the treatment goals that are recommended by treatment guidelines. In this review, we will also provide a comprehensive overview of promising new modalities that could lower LDL-C in FH patients.
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, The Netherlands.
authors.forename: Joost
authors.initials: J
authors.lastname: Besseling
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, The Netherlands.
authors.forename: Barbara
authors.initials: B
authors.lastname: Sjouke
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, The Netherlands. Electronic address: j.j.kastelein@amc.uva.nl.
authors.forename: John J P
authors.initials: JJ
authors.lastname: Kastelein
mesh_terms: D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001055:Apolipoproteins B / Q000378:metabolism; D002352:Carrier Proteins / Q000378:metabolism; D053480:Cholesterol Ester Transfer Proteins / Q000378:metabolism; D003327:Coronary Disease / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D003362:Cost-Benefit Analysis; D000069438:Ezetimibe / Q000627:therapeutic use; D020022:Genetic Predisposition to Disease; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D008403:Mass Screening; D009154:Mutation; D009426:Netherlands; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases / Q000378:metabolism; D011973:Receptors, LDL / Q000235:genetics; D012306:Risk; D012697:Serine Endopeptidases / Q000378:metabolism
chemical_list: D000924:Anticholesteremic Agents; D001055:Apolipoproteins B; C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D011973:Receptors, LDL; C106092:microsomal triglyceride transfer protein; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases; D000069438:Ezetimibe
keywords: Cardiovascular disease; Cholesterol treatment; Familial hypercholesterolemia; Screening