Sanin Veronika, Schmieder Raphael, Ates Sara, Schlieben Lea Dewi, Wiehler Jens, Sun Ruoyu, Decker Manuela, Sander Michaela, Holdenrieder Stefan, Kohlmayer Florian, Friedmann Anna, Mall Volker, Feiler Therese, Dreßler Arne, Strom Tim M, Prokisch Holger, Meitinger Thomas, von Scheidt Moritz, Koenig Wolfgang, Leipold Georg, Schunkert Heribert
Department of Cardiology, Deutsches Herzzentrum München, Technische Universität München, Lazarettstr. 36, D-80636 Munich, Germany.
School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.
Med Genet. 2022 May 7;34(1):41-51. doi: 10.1515/medgen-2022-2115. eCollection 2022 Apr.
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.
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（患病率为1:250）。儿童期的早期诊断可实现预防性治疗，从而降低日后发生严重动脉粥样硬化表现的风险。尽管如此，FH筛查项目却很稀少。VRONI为巴伐利亚州所有5至14岁的儿童在定期儿科就诊时提供FH筛查。中心测量低密度脂蛋白胆固醇（LDL-C），如果超过特定年龄的第95百分位数（130mg/dl，3.34mmol/l），则随后进行FH的基因分析。携带FH致病变异的儿童由专科儿科医生治疗，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旨在证明在儿童中开展基于人群的FH筛查的可行性，并为全国性筛查项目奠定基础。
