Related Experiment Video
Updated: Aug 3, 2026
Cell-free Biochemical Fluorometric Enzymatic Assay for High-throughput Measurement of Lipid Peroxidation in High Density Lipoprotein
Published on: October 12, 2017
Canadian Cardiovascular Society position statement on familial hypercholesterolemia
, Jacques Genest1, Robert A Hegele2
1Department of Medicine, McGill University, Montreal, Quebec, Canada.
Insights
Familial hypercholesterolemia (FH) is a common genetic disorder leading to early cardiovascular disease. Early diagnosis and treatment of FH in Canada can normalize life expectancy, but most cases remain undiagnosed.
Area of Science:
- Cardiovascular Genetics
- Public Health
- Medical Diagnostics
Background:
- Familial hypercholesterolemia (FH) is the most prevalent genetic disorder linked to premature cardiovascular disease and mortality.
- In Canada, heterozygous FH affects ~1:500 individuals, and homozygous FH ~1:1,000,000, with potential underestimation of these figures.
- A significant majority of the estimated 83,500 Canadians with FH remain undiagnosed, presenting a public health challenge and an opportunity for intervention.
Purpose of the Study:
- To increase national awareness of Familial hypercholesterolemia (FH) in Canada.
- To advocate for improved knowledge translation, patient support, and healthcare resource accessibility for FH.
- To address the underrecognition of FH and its impact on public health.
Main Methods:
- Diagnostic strategies involve assessing plasma low-density lipoprotein cholesterol levels, clinical indicators, and family history.
- Genetic testing for causative mutations in FH-related genes aids in diagnosis.
- A comprehensive approach is proposed, including awareness campaigns, a national registry, standardized screening (cascade screening), optimal therapies, patient advocacy, and international collaboration.
Main Results:
- Early treatment of heterozygous FH can lead to normalized life expectancy.
- Current diagnostic algorithms effectively identify FH based on established criteria.
- A multipronged strategy is essential for maximizing FH diagnosis and treatment rates.
Conclusions:
- Familial hypercholesterolemia (FH) is a critical, underdiagnosed condition in Canada with significant cardiovascular implications.
- Implementing a national strategy encompassing awareness, screening, treatment, and support is crucial for managing FH.
- Early detection and intervention are key to mitigating the severe health consequences of FH and improving patient outcomes.
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.
More Related Videos
Related Concept Videos
01:29Cholesterol: Significance and Regulation
Considering cholesterol and...
01:29Pharmacogenomics: Identification of New Drug Targets
01:30Coronary Artery Disease I: Introduction
01:26Coronary Artery Disease IV: Preventive Measures
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:26Atherosclerosis III: Management