Key result
Contemporary HeFH care expands lipid-lowering therapy, yet only ~8% reach target LDL-C levels.
Why the study?
Heterozygous familial hypercholesterolemia is a common genetic disease causing premature cardiovascular disease, but contemporary management and outcomes data in Canada are limited.
Observational (n=339)
Observational study reveals low lipid target attainment in familial hypercholesterolemia despite increased therapy, highlighting critical treatment gaps in cardiovascular care.
BACKGROUND: Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic diseases in the world and an important cause of premature cardiovascular (CV) disease. The purpose of this study was to characterize the clinical features, current treatment patterns, and CV outcomes of patients with HeFH in British Columbia, Canada. METHODS: We conducted a longitudinal observational study of patients with HeFH attending a specialized lipid clinic. We collected data on lipid levels, medication use, and CV events at baseline and last follow-up. RESULTS: We recruited 339 patients with clinically diagnosed HeFH, with a total of 3700 person-years of follow-up. The mean low-density lipoprotein cholesterol (LDL-C) level was 5.9 mmol/L at baseline and 3.7 mmol/L at last follow-up. Use of lipid-lowering therapy (LLT) increased from 35.7% at baseline to 84.7% at last follow-up. A ≥ 50% reduction in LDL-C level was achieved in 34.5% of patients, and an LDL-C level ≤ 2 mmol/L was seen in 8.3%. The overall CV event rate in this cohort was 33.5/1000 person-years. Among patients who had a CV event during follow-up, 59% experienced a recurrent event within 5 years. CONCLUSIONS: These data contribute to our understanding of contemporary trends in the management of patients with HeFH in Canada. Despite a majority of patients receiving LLT, few patients reached high-risk lipid targets. These data highlight important opportunities to improve the care of patients with HeFH.
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Brunham et al. (2016) conducted an observational in Heterozygous familial hypercholesterolemia (HeFH) (n=339). Contemporary management was evaluated on Lipid levels, medication use, and cardiovascular events. Contemporary management of heterozygous familial hypercholesterolemia increased lipid-lowering therapy use to 84.7%, yet only 8.3% of patients achieved an LDL-C level ≤ 2 mmol/L.
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