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

作者信息

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

机构信息

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.

出版信息

Med Genet. 2022 May 7;34(1):41-51. doi: 10.1515/medgen-2022-2115. eCollection 2022 Apr.


DOI:10.1515/medgen-2022-2115
PMID:38836010
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11006262/
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.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9585/11006262/cc2c6741d3a4/j_medgen-2022-2115_fig_003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9585/11006262/49df62bc7465/j_medgen-2022-2115_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9585/11006262/1724d8313a1c/j_medgen-2022-2115_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9585/11006262/cc2c6741d3a4/j_medgen-2022-2115_fig_003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9585/11006262/49df62bc7465/j_medgen-2022-2115_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9585/11006262/1724d8313a1c/j_medgen-2022-2115_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9585/11006262/cc2c6741d3a4/j_medgen-2022-2115_fig_003.jpg

相似文献

[1]
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.

Med Genet. 2022-5-7

[2]
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.

Eur J Public Health. 2022-6-1

[3]
Low-density lipoprotein apheresis: an evidence-based analysis.

Ont Health Technol Assess Ser. 2007

[4]

2016-8

[5]
Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life.

J Cardiovasc Dev Dis. 2024-4-17

[6]
A Selective Screening Strategy Performed in Pre-School Children and Siblings to Detect Familial Hypercholesterolemia.

Children (Basel). 2022-4-21

[7]
Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.

Atherosclerosis. 2018-10

[8]
Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

Eur Heart J. 2015-9-21

[9]
Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations.

J Clin Lipidol. 2022

[10]
The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Dan Med Bull. 2002-11

本文引用的文献

[1]
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

Lancet. 2021-11-6

[2]
Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.

Circ Genom Precis Med. 2020-8

[3]
The mutational constraint spectrum quantified from variation in 141,456 humans.

Nature. 2020-5-27

[4]
Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

Atherosclerosis. 2019-11-15

[5]
20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia.

N Engl J Med. 2019-10-17

[6]
2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk.

Eur Heart J. 2020-1-1

[7]
New approach for detection of LDL-hypercholesterolemia in the pediatric population: The Fr1dolin-Trial in Lower Saxony, Germany.

Atherosclerosis. 2018-11-17

[8]
Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.

Atherosclerosis. 2018-10

[9]
Lipid-modifying therapy and low-density lipoprotein cholesterol goal attainment in patients with familial hypercholesterolemia in Germany: The CaReHigh Registry.

Atherosclerosis. 2018-10

[10]
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

Atherosclerosis. 2018-10

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