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Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018.

Liam R Brunham1, Isabelle Ruel2, Sumayah Aljenedil2

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Familial hypercholesterolemia (FH), a common genetic disorder, significantly increases cardiovascular disease risk. This updated guidance emphasizes early FH diagnosis and treatment to normalize life expectancy for affected individuals.

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Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is a prevalent monogenic disorder leading to premature atherosclerotic cardiovascular disease.
  • An estimated 145,000 Canadians have FH, with a majority remaining undiagnosed.
  • The condition poses a 10- to 20-fold increased risk of cardiovascular events compared to the general population.

Purpose of the Study:

  • To update the 2014 Canadian Cardiovascular Society position statement on FH.
  • To provide a new Canadian definition and diagnostic tools for FH.
  • To guide the identification, recognition, and management of FH patients.

Main Methods:

  • The writing committee utilized the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology.
  • Review and update of existing guidelines on FH management.
  • Development of new diagnostic criteria and treatment targets.

Main Results:

  • Proposed new Canadian definition and diagnostic tools for FH.
  • Recommended treatment strategies including statins, ezetimibe, and PCSK9 inhibitors.
  • Established target low-density lipoprotein cholesterol levels aligned with current dyslipidemia guidelines.

Conclusions:

  • Early diagnosis and treatment initiation in youth can normalize life expectancy for FH patients.
  • Updated guidance aims to improve FH awareness, diagnosis, and access to care in Canada.
  • Comprehensive management strategies are crucial for mitigating the high cardiovascular risk associated with FH.