Cardiovascular Prevention and Cardiometabolic Health CCS University of British Columbia
Disclosure(s):
Iulia Iatan, MD, PhD, FRCPC: No financial relationships to disclose
Background: Familial Hypercholesterolemia (FH) is the most common autosomal dominant disorder in humans and is characterized by elevated low-density lipoprotein cholesterol (LDL-C) and substantially increased risk of atherosclerotic cardiovascular disease (ASCVD). Despite this, FH is under-recognized and under-treated worldwide, including in Canada. National registries play a key role in increasing detection of patients with FH, understanding gaps in care, and improving management and clinical outcomes. The objective of this study was to investigate treatment patterns, lipid targets achieved and cardiovascular outcomes of FH patients in Canada.
METHODS AND RESULTS: We created a national, prospective, multicenter registry of patients with FH in Canada and conducted a longitudinal observational study of adults aged ≥18 years with probable or definite heterozygous FH. Baseline characteristics, lipid levels, medication use and rate of cardiovascular events at time of first clinic visit and last follow-up were analyzed.
A total of 5253 individuals were entered into the registry. Of these, 3737 adults (48.5% women) with a clinical or genetic diagnosis of FH were included in this study, with a total of 17,670 person-years of follow-up. Mean age at enrollment was 44.8 ± 13.8 years with pretreatment LDL-C levels of 6.9 ± 1.8 mmol/L and a prevalence of ASCVD of 30%. At enrollment, 49.1% of patients were taking lipid-lowering therapy (LLT). In patients with follow-up data after enrolment (n=1602, average follow-up 11.9 years), use of LLT increased from 16.7% to 83.5% with a mean on-treatment LDL-C at 3.6 ± 1.9 mmol/L. Among patients receiving LLT at the most recent clinic visit, 50% were on high-intensity statins, 38.4% on statin and ezetimibe and 14% on PCSK9 inhibitors. Patients experienced an average reduction in LDL-C of 48.6% from baseline. As of last follow-up, 45.5% achieved a ≥50% reduction in LDL-C levels, but only 28.6% attained an LDL-C ≤ 2.5 mmol/L. The incidence of cardiovascular events was 13.4/1000 person-years.
Conclusion: This is the largest Canadian study performed in FH patients, providing insight into clinical characteristics and current treatment status of FH patients in Canada. These data highlight existing gaps in care for individuals with FH, and identify important opportunities to improve disease management and outcomes.
