ESPE Abstracts

Background: Heterozygous familial hypercholesterolemia (HeFH) is characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease. European guidelines currently support the initiation of statin therapy by age 8-10 years in patients with HeFH to slow the progression of endothelial disfunction and to reduce the risk of cardiovascular disease in adulthood. However, to date, there is lack of data on adherence to statin therapy in the paediatric population. Therefore, the aim of our study is to assess the efficacy and the adherence to statins among patients followed up at our Paediatric Dyslipidaemia Clinic.

Methods: This is an observational study recruiting a monocentric cohort of children and adolescents with genetically confirmed HeFH. Anthropometric measures, fasting lipid profile and therapeutic data were collected at diagnosis of HeFH [T0], on lipid-lowering diet before starting statin [T1], four weeks after starting therapy [T2] and yearly during the first two years on statin [T3 and T4].

Results: 24 HeFH children and adolescents (17/24 female) were started on statin at a mean age of 13.77±3.09 years (12 on atorvastatin, 10 on pravastatin and 2 on simvastatin). On lipid-lowering diet, lipid metabolism did not change significantly [T0 vs. T1: total cholesterol (TC) 314.80±59.83 vs. 313.39±62.82 mg/dl, P 0.66; LDL-C 237.61±47.18 vs. 218.22±50.15 mg/dl, P 0.11], while on statin the improvement was quick and persistent [TC: T1 313.39±62.82, T2 237.84±28.19, T3 231.35±42.87, T4 227.66±33.42 mg/dl, P<0.05; LDL-C: T1 218.22±50.15, T2 163.85±27.64, T3 153.12±34.90, T4 156.37±34.11 mg/dl, P<0.05]. The mean reduction of LDL-C in comparison to baseline levels was: -34.68±12.99% at T2, -31.57±16.33% at T3 and -30.42±20.78% at T4 (P 0.03). Despite this efficacy and excluding one case of statin-intolerance, 9/23 patients (about 39%) dropped out after one year of statin therapy with a higher prevalence among families without an history of precocious cardio-vascular events (P<0.05).

Conclusions: We report an overall scarce adherence to statins in our paediatric HeFH population despite an efficacy in line with international data. Therefore, it seems imperative to reduce the therapeutic drop out in this category. GP involvement, a more effective communication with patients and their families to emphasize the high HeFH-related cardiovascular risk, and a periodic follow-up including telemedicine may be tools to achieve a better adherence to statins in HeFH paediatric patients.