title: Familial hypercholesterolemia: Review of diagnosis, screening, and treatment.
abstract: OBJECTIVE
  To summarize the pathophysiology, epidemiology, screening, diagnosis, and treatment of familial hypercholesterolemia (FH).
  
  
  METHODS
  A PubMed search was conducted (inception to July 2014) for articles on pathophysiology, screening, diagnosis, and management of FH, supplemented with hand searches of bibliographies of guidelines and reviews. A supporting level of evidence for each recommendation was categorized as level I (randomized controlled trial or systematic review of randomized controlled trials), level II (observational study), or level III (expert opinion). The best available evidence is mostly level II or III.
  
  
  RESULTS
  Familial hypercholesterolemia affects 1 in 500 Canadians. Risk of a coronary event is high in these patients and is underestimated by risk calculators (eg, Framingham). Clinicians should screen patients according to guidelines and suspect FH in any patient with a premature cardiovascular event, physical stigmata of hypercholesterolemia, or an elevated plasma lipid level. Physicians should diagnose FH using either the Simon Broome or Dutch Lipid Network criteria. Management of heterozygous FH includes reducing low-density lipoprotein levels by 50% or more from baseline with high-dose statins and other lipid-lowering agents. Clinicians should refer any patient with homozygous FH to a specialized centre.
  
  
  CONCLUSIONS
  Familial hypercholesterolemia represents an important cause of premature cardiovascular disease in Canadians. Early identification and aggressive treatment of individuals with FH reduces cardiovascular morbidity and mortality.
authors.affiliation: Clinical pharmacist at Vancouver General Hospital in British Columbia.
authors.forename: Ricky D
authors.initials: RD
authors.lastname: Turgeon
authors.affiliation: Assistant Professor in the Faculty of Pharmacy and Pharmaceutical Sciences at the University of British Columbia.
authors.forename: Arden R
authors.initials: AR
authors.lastname: Barry
authors.affiliation: Professor of Medicine in the Division of Cardiology in the Faculty of Medicine at the University of Alberta in Edmonton. Glen.Pearson@ualberta.ca.
authors.forename: Glen J
authors.initials: GJ
authors.lastname: Pearson
mesh_terms: D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D050197:Atherosclerosis / Q000517:prevention & control; D002170:Canada; D002318:Cardiovascular Diseases / Q000517:prevention & control*; D008078:Cholesterol, LDL / Q000097:blood; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use*; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D008403:Mass Screening / Q000379:methods
chemical_list: D000924:Anticholesteremic Agents; D008078:Cholesterol, LDL; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors