PDF(Pubmed)
Abstract：
Familial hypercholesterolemia (FH) is the most frequent monogenic disorder (prevalence 1:250) in the general population. Early diagnosis during childhood enables pre-emptive treatment, thus reducing the risk of severe atherosclerotic manifestations later in life. Nonetheless, FH screening programs are scarce. VRONI offers all children aged 5-14 years in Bavaria a FH screening in the context of regular pediatric visits. LDL-cholesterol (LDL-C) is measured centrally, followed by genetic analysis for FH if exceeding the age-specific 95th percentile (130 mg/dl, 3.34 mmol/l). Children with FH pathogenic variants are treated by specialized pediatricians and offered a FH-focused training course by a qualified training center. Reverse cascade screening is recommended for all first-degree relatives. VRONI aims to prove the feasibility of a population-based FH screening in children and to lay the foundation for a nationwide screening program.
摘要：
家族性高胆固醇血症（FH）是普通人群中最常见的单基因疾病（患病率1：250）。儿童时期的早期诊断可以实现先发制人的治疗，从而降低了以后生活中严重动脉粥样硬化表现的风险。尽管如此，FH筛查计划很少。VRONI为巴伐利亚的所有5-14岁儿童提供定期儿科就诊的FH筛查。LDL-胆固醇（LDL-C）是集中测量的，如果超过特定年龄的第95百分位数（130mg/dl，3.34mmol/l)。患有FH致病变异的儿童由专门的儿科医生治疗，并由合格的培训中心提供以FH为重点的培训课程。建议对所有一级亲属进行反向级联筛查。VRONI旨在证明在儿童中进行基于人群的FH筛查的可行性，并为全国筛查计划奠定基础。
