Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study-Reference-Cited by-同舟云学术

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

Published:2022-04-01 Issue:1 Volume:34 Page:41-51
ISSN:1863-5490
Container-title:Medizinische Genetik
language:en
Short-container-title:

Author:

Sanin Veronika¹^ORCID,Schmieder Raphael¹,Ates Sara¹,Schlieben Lea Dewi²³,Wiehler Jens⁴,Sun Ruoyu⁴,Decker Manuela¹,Sander Michaela⁵,Holdenrieder Stefan⁵,Kohlmayer Florian⁶,Friedmann Anna⁷,Mall Volker⁷,Feiler Therese⁸,Dreßler Arne⁸,Strom Tim M.²,Prokisch Holger²³,Meitinger Thomas²⁹,von Scheidt Moritz¹⁹,Koenig Wolfgang¹⁹,Leipold Georg¹⁰,Schunkert Heribert¹⁹^ORCID

Affiliation:

1. Department of Cardiology, Deutsches Herzzentrum München , Technische Universität München , Lazarettstr. 36 , Munich , Germany

2. School of Medicine, Institute of Human Genetics , Technische Universität München , Munich , Germany

3. Institute of Neurogenomics, Department Computational Health , Helmholtz Zentrum München , Munich , Germany

4. Bio Biotech Cluster Development GmbH , Martinsried , Germany

5. Institute of Laboratory Medicine, Deutsches Herzzentrum München , Technische Universität München , Munich , Germany

6. Bitcare GmbH , Munich , Germany

7. Department of Pediatrics, Child and Adolescent Psychosomatics , Technische Universität München , Munich , Germany

8. Department of Systematic Theology and Ethics , Ludwig-Maximilians-Universität München , Munich , Germany

9. Deutsches Zentrum für Herz- und Kreislauferkrankungen (DZHK) , Partner Site Munich Heart Alliance , Munich , Germany

10. Professional Association of Pediatricians (BVKJ) of Bavaria , Munich , Germany

Abstract

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.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

https://www.degruyter.com/document/doi/10.1515/medgen-2022-2115/pdf

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