Cascade screening and treatment of children with familial hypercholesterolemia in Turkey

Abstract

ObjectivesPremature 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.MethodsPatients 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.ResultsFifty-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.ConclusionsWe 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.

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia

“…When compared with previous studies on Turkish population, sequence analysis of all coding regions and intronic regions closer to the exons of LDLR revealed rare genetic variations in our population. [15][16][17][18][19][20] A total of 30 different variations were detected; in nearly 50% of all Functional studies demonstrated that this variation reduces the LDL receptor activity to <5% of the wild-type receptor's activity. 21 When the frequencies of mutations in the populations of Asia, Balkans, Cyprus, and Greece that are geographically close to Turkey were examined, this variation was not observed in the neighborhood populations, except in an Iranian population.…”

Opportunistic screening for familial hypercholesterolemia based on observational registries data analysis

“…Некоторые страны только в последнее время акцентировали внимание на этой проблеме и стали создавать регистры пациентов с СГХС в своей популяции (Вьетнам, Турция) [15,20]. Это же касается и России [21].…”

Dyslipidemia in youth: Epidemiology, pathophysiology, screening, management, and treatment: A review of the literature

“…To date, cascade genetic screening is an economical method for screening children with background early atherosclerosis or elevated cholesterol levels. [ 34 35 ] Cascade screening is defined as a systematic process of identifying people with a medical condition. The process starts with clinical genetic identification of one of the suffered family members, and it requires periodic replicated or circular tests of closer relatives.…”