Cascade screening and treatment of children with familial hypercholesterolemia in Turkey

Objectives: Premature coronary artery disease is the most common preventable cause of death in developed countries, and familial hypercholesterolemia (FH) is the most common monogenetic disorder of lipid metabolism, predisposing for premature coronary artery. FH is the most common preventable cause of death in developed countries. In 2016, the national lipid screening program in school-age children has been started in Turkey. In this study, we aimed to evaluate the efficacy of lipid screening program, lipid-lowering treatments, and the challenges of treatments in children diagnosed with FH. Methods: Patients diagnosed with FH in the pediatric metabolism outpatient clinic were retrospectively evaluated. Changes in lipid profile with dietary interventions and statin treatments were assessed. The results of cascade screening were analyzed. Results: Fifty-one patients diagnosed with FH were enrolled in the study. Twenty-four (47.1%) were female. The mean age of the patients was 9.8 +/- 3.2 years. Heterozygous LDLR gene mutation was detected in all patients. Three novel pathogenic variations were revealed with the genetic investigation. Forty-one (80.4%) patients had high adherence to CHILD-2 dietary recommendations. The mean low-density lipoprotein cholesterol (LDL-C) level decreased by 14.5 +/- 7.6% after dietary intervention. Parents refused to start statin treatment in 8 (15.7%) patients. Statin treatment was initiated to 22 (43.1%) patients. Mean LDL-C level decreased from 204.1 +/- 19.1 mg/dL to 137.0 +/- 13.1 mg/dL. In cascade screening, 7 (13.7%) parents without a diagnosis of FH were diagnosed with FH. After the screening program, statin treatment was initiated for 18 (35.3%) parents and 7 (16.3%) siblings. Conclusions: We can conclude that screening for FH in children is crucial for diagnosing FH not only in children but also in their relatives. Although statins are safe and effective in achieving the target LDL-C level, we determined significant resistance for initiating statin treatment in patients.