Treatment of Pediatric Heterozygous Familial Hypercholesterolemia 7 Years after the EAS Recommendations: Real-world Results from a Large French Cohort

Background: Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8 -10 years of age and a low -density lipoprotein cholesterol (LDL-C) target of <135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking. Objective: Here, we describe treatment patterns and LDL-C goal attainment in pediatric HeFH using longitudinal real -world data. Methods: This was a retrospective and prospective multicenter cohort study (2015 -2021) of children with HeFH, diagnosed genetically or clinically, aged <18 years, and followed up in the National French Registry of FH (REFERCHOL). Data on the study population as well as treatment patterns and outcomes are summarized as mean +/- SD. Results: We analyzed the data of 674 HeFH children (age at last visit: 13.1 +/- 3.6 years; 82.0 % >= 10 years; 52.5 % females) who were followed up for a mean of 2.8 +/- 3.5 years. Initiation of lipid -lowering therapy was on average at 11.8 +/- 3.0 years of age for a duration of 2.5 +/- 2.8 years. At the last visit, among patients eligible for treatment (573), 36 % were not treated, 57.1 % received statins alone, 6.4 % statins with ezetimibe, and 0.2 % ezetimibe alone. LDL-C was 266 +/- 51 mg/dL before treatment and 147 +/- 54 mg/dL at the last visit (-44.7 %) in treated patients. Regarding statins, 3.3 %, 65.1 %, and 31.6 % of patients received high-, moderate-, and low -intensity statins, respectively. Overall, 59 % of children on statin therapy alone and 35.1 % on bitherapy did not achieve the LDL-C goal; fewer patients in the older age group did not reach the treatment goal. Conclusion: Pediatric patients with FH followed up in specialist lipid clinics in France receive late treatment, undertreatment, or suboptimal treatment and half of them do not reach the therapeutic LDL-C goal. Finding a more efficient framework for linking scientific evidence to clinical practice is needed. (c) 2024 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.