Familial hypercholesterolemia (FH), in its heterozygous form, is considered to be the most common autosomal genetic disorder in humans, with a prevalence in the general population of 0.4%, or 1 in 250.
1Through genetic mutations in proteins ultimately involved in low-density lipoprotein (LDL)–cholesterol production or regulation, FH results in a lifelong increase in LDL-cholesterol concentrations, leading to a multifold increase in the risk of atherosclerotic cardiovascular disease (ASCVD), particularly with premature onset. Statins are generally as effective at LDL lowering in patients with FH as in the general ASCVD population, where their benefits on ASCVD outcomes and mortality are firmly established. Despite the availability of genetic testing and validated diagnostic algorithms, barely 10% of FH cases have been identified worldwide.
- Brunham L.R.
- Ruel I.
- Aljenedil S.
- et al.
CCS position statement on familial hypercholesterolemia: 2018 update.
Can J Cardiol. 2018; 34: 1553-1563
2As such, there remains an incredible opportunity to better identify (and manage) patients with FH to prevent future events.
- Nordestgaard B.G.
- Chapman M.J.
- Humphries S.E.
- et al.
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
Eur Heart J. 2013; 34 (3478-90a)
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- CCS position statement on familial hypercholesterolemia: 2018 update.Can J Cardiol. 2018; 34: 1553-1563
- Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur Heart J. 2013; 34 (3478-90a)
- Familial hypercholesterolemia among young adults with myocardial infarction.J Am Coll Cardiol. 2019; 73: 2439-2450
- Estimating the prevalence of familial hypercholesterolemia in acute coronary syndrome: a systematic review and meta-analysis.Can J Cardiol. 2019; 35: 1322-1331
- A test in context: lipoprotein(a): diagnosis, prognosis, controversies, and emerging therapies.J Am Coll Cardiol. 2017; 69: 692-711
- Simplified Canadian definition for familial hypercholesterolemia.Can J Cardiol. 2018; 34: 1210-1214
Published online: August 05, 2019
Accepted: July 15, 2019
Received: July 15, 2019
See article by Kramer et al., pages 1322–1331 of this issue.
See page 1271 for disclosure information.
© 2019 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
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- Estimating the Prevalence of Familial Hypercholesterolemia in Acute Coronary Syndrome: A Systematic Review and Meta-analysisCanadian Journal of CardiologyVol. 35Issue 10
- PreviewHeterozygous familial hypercholesterolemia (FH) is one of the most common monogenic conditions but remains substantially underdiagnosed. One method for increasing the diagnosis is via opportunistic screening of individuals presenting with acute coronary syndrome (ACS). The prevalence of FH in the ACS population has been assessed in numerous studies using various diagnostic criteria, resulting in wide variability of prevalence estimates. The purpose of this study was to perform a systematic review and meta-analysis to provide a more robust estimate.