Department of Pediatric Metabolism and Nutrition, Katip Celebi University Faculty of Medicine, Izmir, Turkey.
Department of Nutrition and Dietetics, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
J Pediatr Endocrinol Metab. 2020 Aug 24;33(10):1251-1256. doi: 10.1515/jpem-2020-0234.
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.
在发达国家，过早的冠状动脉疾病是最常见的可预防的死亡原因，家族性高胆固醇血症（FH）是最常见的脂质代谢单基因紊乱，易导致过早的冠状动脉疾病。FH 是发达国家最常见的可预防的死亡原因。2016 年，土耳其在学龄儿童中启动了国家血脂筛查计划。在这项研究中，我们旨在评估血脂筛查计划、降脂治疗的效果，以及在诊断为 FH 的儿童中治疗的挑战。
我们回顾性评估了在儿科代谢门诊被诊断为 FH 的患者。评估了饮食干预和他汀类药物治疗对血脂谱的影响。分析了级联筛查的结果。
本研究共纳入 51 例 FH 患者，其中 24 例（47.1%）为女性，平均年龄为 9.8±3.2 岁。所有患者均检测到 LDLR 基因突变。遗传研究发现了 3 种新的致病性变异。41 例（80.4%）患者高度遵守 CHILD-2 饮食建议。饮食干预后，低密度脂蛋白胆固醇（LDL-C）水平平均降低 14.5±7.6%。8 例（15.7%）患者的父母拒绝开始他汀类药物治疗，22 例（43.1%）患者开始接受他汀类药物治疗。LDL-C 水平从 204.1±19.1mg/dL 降至 137.0±13.1mg/dL。在级联筛查中，7 例（13.7%）无 FH 诊断的父母被诊断为 FH。筛查后，18 例（35.3%）父母和 7 例（16.3%）兄弟姐妹开始接受他汀类药物治疗。
我们可以得出结论，筛查儿童 FH 不仅对儿童，而且对其亲属 FH 的诊断至关重要。虽然他汀类药物在达到 LDL-C 目标水平方面是安全有效的，但我们确定患者对开始他汀类药物治疗存在显著的抵触。
