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Can Fam Physician. 2016 Jan;62(1):32-7.

Familial hypercholesterolemia: Review of diagnosis, screening, and treatment.

Author information

1
Clinical pharmacist at Vancouver General Hospital in British Columbia.
2
Assistant Professor in the Faculty of Pharmacy and Pharmaceutical Sciences at the University of British Columbia.
3
Professor of Medicine in the Division of Cardiology in the Faculty of Medicine at the University of Alberta in Edmonton. Glen.Pearson@ualberta.ca.

Abstract

OBJECTIVE:

To summarize the pathophysiology, epidemiology, screening, diagnosis, and treatment of familial hypercholesterolemia (FH).

QUALITY OF EVIDENCE:

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.

MAIN MESSAGE:

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.

CONCLUSION:

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.

PMID:
26796832
PMCID:
PMC4721838
[Indexed for MEDLINE]
Free PMC Article

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