title: Canadian Cardiovascular Society position statement on familial hypercholesterolemia.
abstract: Familial hypercholesterolemia (FH) is the most common genetic disorder causing premature cardiovascular disease and death. Heterozygous FH conservatively affects approximately 1:500 Canadians, and the more serious homozygous form affects approximately 1:1,000,000 Canadians, although these numbers might be underestimated. Of approximately 83,500 Canadians estimated to have FH, most are undiagnosed, which represents a simultaneous public health deficit and opportunity, because early treatment of heterozygous FH can normalize life expectancy. Diagnostic algorithms for FH incorporate increased plasma low-density lipoprotein cholesterol, pathognomonic clinical features, and family history of early cardiovascular disease and hyperlipidemia. DNA-based detection of causative mutations in FH-related genes can help with diagnosis. Maximizing diagnosis and treatment of FH in Canada will involve a multipronged approach, including: (1) increasing awareness of FH among health care providers and patients; (2) creating a national registry for FH individuals; (3) setting standards for screening, including cascade screening in affected families; (4) ensuring availability of standard-of-care therapies, in particular optimization of plasma low-density lipoprotein cholesterol levels and timely access to future validated therapies; (5) promoting patient-based support and advocacy groups; and (6) forming alliances with international colleagues, resources, and initiatives that focus on FH. This document aims to raise awareness of FH nationally, and to mobilize knowledge translation, patient support, and availability of treatment and health care resources for this underrecognized, but important medical condition.
authors.affiliation: Department of Medicine, McGill University, Montreal, Quebec, Canada. Electronic address: Jacques.genest@mcgill.ca.
authors.forename: Jacques
authors.initials: J
authors.lastname: Genest
authors.affiliation: Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
authors.affiliation: Universite Laval, Quebec, Canada.
authors.forename: Jean
authors.initials: J
authors.lastname: Bergeron
authors.affiliation: Department of Medicine, McGill University, Montreal, Quebec, Canada.
authors.forename: James
authors.initials: J
authors.lastname: Brophy
authors.affiliation: Departement de Medecine, Universite de Sherbrooke, Sherbrooke, Quebec, Canada.
authors.forename: Andre
authors.initials: A
authors.lastname: Carpentier
authors.affiliation: Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
authors.forename: Patrick
authors.initials: P
authors.lastname: Couture
authors.affiliation: Institut de Recherches Cliniques de Montreal, Montreal, Quebec, Canada.
authors.forename: Jean
authors.initials: J
authors.lastname: Davignon
authors.affiliation: Institut de Recherches Cliniques de Montreal, Montreal, Quebec, Canada.
authors.forename: Robert
authors.initials: R
authors.lastname: Dufour
authors.affiliation: Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Jiri
authors.initials: J
authors.lastname: Frohlich
authors.affiliation: Department of Medicine, Universite de Montreal, Montreal, Quebec, Canada.
authors.forename: Daniel
authors.initials: D
authors.lastname: Gaudet
authors.affiliation: Department of Medicine, McMaster University, Hamilton, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Milan
authors.initials: M
authors.lastname: Gupta
authors.affiliation: Department of Medicine, McGill University, Montreal, Quebec, Canada.
authors.forename: Preetha
authors.initials: P
authors.lastname: Krisnamoorthy
authors.affiliation: Institut de Recherches Cliniques de Montreal, Montreal, Quebec, Canada.
authors.forename: John
authors.initials: J
authors.lastname: Mancini
authors.affiliation: Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Brian
authors.initials: B
authors.lastname: McCrindle
authors.affiliation: Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Paolo
authors.initials: P
authors.lastname: Raggi
authors.affiliation: Department of Medicine, McGill University, Montreal, Quebec, Canada.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Ruel
authors.affiliation: Departement de Medecine, Universite de Sherbrooke, Sherbrooke, Quebec, Canada; Department of Medicine, Centre hospitalier de Chicoutimi, Chicoutimi, Quebec, Canada.
authors.forename: Julie
authors.initials: J
authors.lastname: St-Pierre
mesh_terms: D002170:Canada / Q000453:epidemiology; D002318:Cardiovascular Diseases / Q000175:diagnosis / Q000209:etiology / Q000517:prevention & control; D006293:Health Promotion; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000235:genetics / Q000628:therapy; D009017:Morbidity / Q000639:trends; D012955:Societies, Medical; D015996:Survival Rate / Q000639:trends