Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort
Résumé
ackground: 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 longitudi-
nal 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-, moder-
ate-, 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