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.
Ont Health Technol Assess Ser. 2007
J Cardiovasc Dev Dis. 2024-4-17
Circ Genom Precis Med. 2020-8
N Engl J Med. 2019-10-17