Abstract

Familial hypercholesterolemia (FH) is the most common genetic disorder of lipoprotein metabolism, affecting 1:250 individuals worldwide. This monogenic disease is associated with lifelong elevation in circulating low-density lipoprotein cholesterol and premature cardiovascular disease (CVD). In 2016, the estimated prevalence of diabetes in Canada was 9%. In the FH population, little is known about the prevalence of diabetes and its impact on CVD risk. The objectives of this study were to investigate the prevalence of diabetes among a large cohort of FH patients and to investigate the association between diabetes and CVD risk. The FH Canada registry contains data on 3740 subjects. We selected adult patients with FH according to the Dutch Lipid Clinic Network criteria. After excluding subjects with missing data, there remained 1412 patients who were included in the final analysis. The present cohort from the FH Canada database comprises a total of 73 diabetic patients (5%). The prevalence of CVD was higher in diabetic FH patients (45%) than in nondiabetics (22%) (odds ratio 2.9, 95% confidence interval 1.8-4.7, P<.0001). However, the average Montreal-FH-SCORE was also higher in the diabetic group than in the nondiabetic group (29.7 vs 21.2, respectively, P<.0001). Diabetes was no longer a significant predictor of CVD when the analysis was adjusted for the Montreal-FH-SCORE. In conclusion, diabetic FH patients represent a high-risk group for CVD risk, most likely due to the fact that diabetic subjects have many concomitant cardiometabolic risk factors.

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