Grant: Project Grant

Familial Hypercholesterolemia (FH) is a genetic condition characterized by marked elevation in the blood of low-density lipoprotein cholesterol (LDL-C, the "bad" cholesterol). FH affects 1 in 250 Canadians, making it among the most common genetic disorders in humans and one of the most common causes of premature cardiovascular disease and death. We expect approximately 140,000 cases in Canada. FH is under-recognized and under-treated world-wide and in Canada, more than 85% of cases are undiagnosed. New approaches to identify and diagnose these patients are urgently needed. Genetic testing for FH is widely endorsed internationally, but is not widely available in Canada. National registries of FH play a key role in increasing the detection of patients with FH and improving management and outcomes. We created the FH Canada National Registry (www.FHCanada.net), which recruits patients with FH from 19 academic medical centers and many clinics across the country; as of July 2019, we have recruited over 4400 patients. Our hypotheses are that a personalized approach to diagnosis and risk prediction will increase the identification of patients with FH in Canada, and that a coordinated national registry will facilitate access to appropriate therapies, and reduce the burden of premature cardiovascular disease and death in Canadians with FH. The specific objectives of this proposal are: 1) Predict ASCVD risk in patients with FH using a specific risk algorithm and genetic diagnosis. We will also examine the 10-year survival in our cohort. 2) Identify the patient-specific barriers to care, especially the patient's sex and gender through an innovative questionnaire. We will then determine if knowledge of the genetic diagnosis has an impact on the intensity of statin treatment, adherence to medication and compliance with current guidelines. 3) We will implement change through performance indicators collected through the FHCanada registry and a process of feedback to physicians.