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Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: Design of the VRONI study.
Med. Genet. 34, 41-51 (2022)
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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Digimed Bayern ; Vroni ; Familial Hypercholesterolemia ; Hyperlipidemia ; Atherosclerosis ; Screening; Goal Attainment; Care; Identification; Association; Guidelines; Guidance
ISSN (print) / ISBN
0936-5931
e-ISSN
1863-5490
Journal
Medizinische Genetik
Quellenangaben
Volume: 34,
Issue: 1,
Pages: 41-51
Publisher
Springer
Publishing Place
Genthiner Strasse 13, D-10785 Berlin, Germany
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
Bavarian State Ministry of Health and Care