Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study

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; Scheidt, Moritz von; Koenig, Wolfgang; Leipold, Georg und Schunkert, Heribert (2022): Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study. In: Medizinische Genetik, Bd. 34, Nr. 1: S. 41-51

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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Evangelische Theologie
• Themengebiete: 200 Religion > 200 Religion
• ISSN: 0936-5931
• Sprache: Englisch