부산대학교 도서관

Introduction: The safety of lipid lowering therapy (LLT) in familial hypercholesterolemia (FH) children ≤ 10-years-old, is unclear.Hypothesis: To show that LLT is safe in children and adolescents with genetically confirmed FH, with focus in those ≤ 10-years-old.Methods: This study evaluated individuals under 19-years-old who were screened in a genetic cascade and found to have a mutation for FH. Baseline and follow-up characteristics were assessed in children on LLT or not. LLT treatment was started at the physician’s discretion.Results: From a genetic cascade screening program, 288 individuals under 19 years-old were identified, and 144 had a positive mutation. Of these, 90 were included in this analysis. Forty-five (50%) were female, baseline mean age was 7.9±3.8 years-old, and the mean follow-up was 3.1±2.6 years; 88.9% (n=80) were FH heterozygotes, and a mutation in the LDLR gene was the most prevalent (93.3%, n=84). Mean baseline total cholesterol (TC) and LDL-C were 330±173 and 270±171 mg/dL, respectively. In the homozygous group, mean TC and LDL-C were 721±186 and 660±187 mg/dL. Treatment with statin and/or ezetimibe was initiated in 50% (n=45) of all individuals, with 9.1±3.1 years as the mean age of treatment initiation; mean final dose of Atorvastatin was 21±23mg/d. Mean reduction in LDL-C was 27% (89 mg/dl). Among treated patients, 73% (n=33) were under 10 years-old (mean TC and LDL baseline levels were 384.3±203.0 and 318.2 ±204.6 mg/dL). During follow-up, 11% (n=5) of treated patients had myalgias; one of them had CK elevation (2.5 times the reference), and was kept without LLT. The remaining patients were rechallenged, and only one had myalgia recurrence, with drug withdrawal. Overall, the assessed safety parameters did not significantly change in both treated and untreated groups (table).Conclusions: In this cohort of children presenting genetically confirmed FH, LLT was safe even in those under 10-y-old.