Factors Predicting Statin Initiation During Childhood in Familial Hypercholesterolemia: Importance of Genetic Diagnosis

• Published in: The Journal of pediatrics Vol. 253; pp. 18 - 24.e2
• Main Authors: Peretti, Noel, Vimont, Alexandre, Mas, Emmanuel, Ferrières, Jean, Tounian, Patrick, Lemale, Julie, Boccara, Franck, Di Filippo, Mathilde, Charriere, Sybil, Moulin, Philippe, Poinsot, Pierre, Cottin, Yves, Ducluzeau, Pierre-Henri, Dourmap, Caroline, Cariou, Bertrand, Farnier, Michel, Paillard, François, Pradignac, Alain, Yelnik, Cécile, Gallo, Antonio, Bruckert, Eric, Beliard, Sophie
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.02.2023; Elsevier
• Subjects: Adolescent; Atherosclerosis - etiology; Atherosclerosis - genetics; atherosclerotic cardiovascular disease; cardiovascular risk; Child; children; Cholesterol, LDL; Cohort Studies; familial hypercholesterolemia; Food and Nutrition; genetic; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use; Hypercholesterolemia - complications; Hyperlipoproteinemia Type II - diagnosis; Hyperlipoproteinemia Type II - drug therapy; Hyperlipoproteinemia Type II - genetics; LDL; Life Sciences; risk factor; statin; treatment; genetic; treatment; FH; CAC; ASCVD; LDL-C; atherosclerotic cardiovascular disease; risk factor; TC; statin; children; LDL; familial hypercholesterolemia; cardiovascular risk; HeFH; Ldl
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2022.08.041

To identify childhood and parental factors associated with initiation of statin therapy in children with heterozygous familial hypercholesterolemia (HeFH), including underlying genetic diagnosis or parental premature atherosclerotic cardiovascular disease (ASCVD). This multicenter cohort study included 245 HeFH child–parent pairs from the REFERCHOL national register (2014-2020). Demographic and clinical characteristics at the last visit were collected. Vascular disease in parents was defined as a history of ASCVD, and/or a coronary artery calcium score >100, and/or stenosis of >50% in at least carotid artery. Statistical analyses included descriptive analysis, logistic regression for univariate and multivariate effects of statins, and a sensitivity analysis combining the characteristics of children and parents. Among the 245 children in the study cohort, 135 (58%), with a mean age of 14 ± 3 years, were treated with a statin. In multivariable analysis, the predictive childhood factors associated with statin treatment were genetic diagnosis (OR, 2.5; 95% CI, 1.3 to 4.9; P = .01), older age (OR, 4.4; 95% CI, 1.8-10.6; P = .01), more than 2 visits (OR, 2.36; 95% CI, 1.18-4.73; P = .015), and longer duration of follow-up (OR, 1.3; 95% CI, 1.1-1.6; P < .001). The predictive parental factor associated with childhood treatment was the presence of vascular disease (OR, 2.4; 95% CI, 1.0-5.7; P = .04). HeFH confirmed by DNA testing during childhood and a history of vascular disease in parents were independently associated with statin treatment in children with HeFH. Genetic diagnosis may be useful for cardiovascular prevention in children.