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Sanin, V.* ; Schmieder, R.* ; Ates, S.* ; Schlieben, L.D. ; Wiehler, J.* ; Sun, R.* ; Decker, M.* ; Sander, M.* ; Holdenrieder, S.* ; Kohlmayer, F.* ; Friedmann, A.* ; Mall, V.* ; Feiler, T.* ; Dressler, A.* ; Strom, T.M.* ; Prokisch, H. ; Meitinger, T.* ; von Scheidt, M.* ; Koenig, W.* ; Leipold, G.* ; Schunkert, H.*

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

Med. Genet. 34, 41-51 (2022)
Verlagsversion DOI
Open Access Hybrid
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Digimed Bayern ; Vroni ; Familial Hypercholesterolemia ; Hyperlipidemia ; Atherosclerosis ; Screening; Goal Attainment; Care; Identification; Association; Guidelines; Guidance
Sprache englisch
Veröffentlichungsjahr 2022
HGF-Berichtsjahr 2022
ISSN (print) / ISBN 0936-5931
e-ISSN 1863-5490
Zeitschrift Medizinische Genetik
Quellenangaben Band: 34, Heft: 1, Seiten: 41-51 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort Genthiner Strasse 13, D-10785 Berlin, Germany
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503292-001
Förderungen Bavarian State Ministry of Health and Care
DOI 10.1515/medgen-2022-2115
WOS ID 000791502400006
WOS ID WOS:000791502400006
Scopus ID 85130603810
Erfassungsdatum 2022-06-29
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