Background: Familial hypercholesterolemia (FH) is characterized by extremely high low-density lipoprotein cholesterol (LDL-C) concentration and premature cardiovascular disease (CVD). Not all FH patients present the same CVD risk, and currently, there is no clinical tool to assess this risk.
Objective: The objectives of this cross-sectional cohort study are twofold: to identify the strongest predictors of CVD in patients with FH and to develop a new score to identify FH patients at very high CVD risk.
Methods: We screened 20,434 patients with dyslipidemia to identify carriers of an FH-causing mutation. A total of 670 adult subjects with a causal mutation in the LDL receptor (LDLR) gene were included in the present study.
Results: Age (β = 0.75), HDL-C (β = -0.27), male gender (β = 0.25), hypertension (β = 0.19), and smoking (β = 0.12) were independent predictors of CVD risk in FH subjects (n = 638). The Montreal-FH-SCORE significantly predicted CVD better than each individual variable (AUC of 0.840 [0.808-0.872], P < .0001). FH subjects with a high Montreal-FH-SCORE score (above 20) presented a significant 10.3-fold higher odds of presenting CVD events compared to subjects in the lower score group (95% CI, 6.7-15.7, P < .0001).
Conclusion: Cardiovascular risk in FH can be stratified with a combination of simple clinical variables, independently of LDL-C value. The Montreal-FH-SCORE score is strongly associated with CVD events in FH and could be useful to select FH subjects who would benefit from further CVD risk reduction.
Keywords: Age; Cardiovascular disease; Familial hypercholesterolemia; Gender; HDL-C; Hypertension; Risk prediction; Smoking.
Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.