Canadian Cardiovascular Society position statement on familial hypercholesterolemia

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.