Pediatric Endocrinology and Diabetology (DECCP), Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg
Research Group GRON, VUB University, Brussels, Belgium.
BMJ Open. 2022 Dec 9;12(12):e066067. doi: 10.1136/bmjopen-2022-066067.
Familial hypercholesterolaemia (FH) is a frequent (1:300) autosomal dominantly inherited condition which causes premature (women <60 years, men <55 years) cardio-cerebrovascular disease (CVD). Early detection and initiation of treatment can prevent the development of CVD and premature death. Our pilot study aims to investigate the prevalence of FH, the feasibility and efficacy of a screening based on a capillary blood test performed during a school medicine visit in primary school children.
In this cross-sectional study, all children (n=3200) between 7 and 12 years, attending primary school in the city of Luxembourg and invited for their mandatory medical school examinations between 2021 and 2023 are invited to participate. A study nurse performs a capillary blood test to analyse the lipid profile. Families receive the result including an interpretation and invitation to seek medical advice if indicated. If FH is confirmed, a reverse cascade screening in that family will be proposed. The child will receive standard care. Primary outcome is the occurrence of confirmed FH in the study population. Secondary outcomes include the percentage of children screened, percentage of children with abnormal lipid values, percentage of families screened and percentage of families with additionally identified members suffering from hypercholesterolaemia. A health economic analysis will be performed.
Ethics approval (reference number 202108/01) has been obtained from the National Research Ethics Committee (CNER (Luxembourg)) and was authorised by the ministry of health in Luxembourg. Families receive written information with an informed consent form. Participation requires an informed consent form signed by the parents. The results will be disseminated in peer-reviewed publications, conference presentations and by public media to the general public.
NCT05271305.
家族性高胆固醇血症（FH）是一种常见的（1:300）常染色体显性遗传疾病，可导致早发性（女性<60 岁，男性<55 岁）心脑血管疾病（CVD）。早期发现和治疗可以预防 CVD 和早逝的发生。我们的初步研究旨在调查 FH 的流行率，以及在小学医学生体检期间进行毛细血管血检测的基于筛查的可行性和效果。
在这项横断面研究中，邀请 2021 年至 2023 年期间参加卢森堡市小学强制性医学生体检的所有 7 至 12 岁儿童（n=3200）参加。一名研究护士进行毛细血管血检测以分析血脂谱。家庭将收到包括解释和建议的结果，如果需要，可寻求医疗建议。如果确诊 FH，则将在该家庭中提出反向级联筛查。孩子将接受标准护理。主要结局是研究人群中确诊 FH 的发生。次要结局包括筛查的儿童百分比、血脂值异常的儿童百分比、筛查的家庭百分比和另外确定患有高胆固醇血症的家庭成员的家庭百分比。将进行健康经济分析。
已获得国家伦理委员会（卢森堡 CNER）的伦理批准（参考号 202108/01），并得到卢森堡卫生部的授权。家庭收到附有知情同意书的书面信息。参与需要父母签署的知情同意书。结果将在同行评议的出版物、会议演讲和大众媒体上发表，以向公众传播。
NCT05271305。
