Martine Paquette1, Robert Dufour2, Alexis Baass3. 1. Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Montreal, Québec, Canada. 2. Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Montreal, Québec, Canada; Department of Nutrition, Université de Montréal, Montreal, Québec, Canada. 3. Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Montreal, Québec, Canada; Department of Medicine, Division of Experimental Medicine, McGill University, Montreal, Québec, Canada; Department of Medicine, Division of Medical Biochemistry, McGill University, Montreal, Québec, Canada. Electronic address: alexis.baass@ircm.qc.ca.
Abstract
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.
BACKGROUND:Familial hypercholesterolemia (FH) is characterized by extremely high low-density lipoprotein cholesterol (LDL-C) concentration and premature cardiovascular disease (CVD). Not all FHpatients 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 FHpatients 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.
Authors: Anna E Semenova; Igor V Sergienko; Diego García-Giustiniani; Lorenzo Monserrat; Anna B Popova; Diana N Nozadze; Marat V Ezhov Journal: J Cardiovasc Dev Dis Date: 2020-05-14
Authors: Maria Mytilinaiou; Ioannis Kyrou; Mike Khan; Dimitris K Grammatopoulos; Harpal S Randeva Journal: Front Pharmacol Date: 2018-07-12 Impact factor: 5.810