Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Dec 9;12(12):e066067.
doi: 10.1136/bmjopen-2022-066067.

Screening for familial hypercholesterolaemia in primary school children: protocol for a cross-sectional, feasibility study in Luxembourg city (EARLIE)

Marianne Becker  1   2 , Aurélie Adamski  3 , Françoise Fandel  4 , Michel Vaillant  5 , Kerstin Wagner  6 , Dirk Wolfgang Droste  7 , Bechara Ziade  8 , Steve Hein  9 , Priyanka Mendon  5 , Valéry Bocquet  5 , Carine de Beaufort  3   10
Affiliations

Screening for familial hypercholesterolaemia in primary school children: protocol for a cross-sectional, feasibility study in Luxembourg city (EARLIE)

Marianne Becker et al. BMJ Open. .

Abstract

Introduction: Familial hypercholesterolaemia (FH) is a frequent (1:300) autosomal dominantly inherited condition which causes premature (women <60 years, men <55 years) cardio-cerebrovascular disease (CVD). Early detection and initiation of treatment can prevent the development of CVD and premature death. Our pilot study aims to investigate the prevalence of FH, the feasibility and efficacy of a screening based on a capillary blood test performed during a school medicine visit in primary school children.

Methods and analysis: In this cross-sectional study, all children (n=3200) between 7 and 12 years, attending primary school in the city of Luxembourg and invited for their mandatory medical school examinations between 2021 and 2023 are invited to participate. A study nurse performs a capillary blood test to analyse the lipid profile. Families receive the result including an interpretation and invitation to seek medical advice if indicated. If FH is confirmed, a reverse cascade screening in that family will be proposed. The child will receive standard care. Primary outcome is the occurrence of confirmed FH in the study population. Secondary outcomes include the percentage of children screened, percentage of children with abnormal lipid values, percentage of families screened and percentage of families with additionally identified members suffering from hypercholesterolaemia. A health economic analysis will be performed.

Ethics and dissemination: Ethics approval (reference number 202108/01) has been obtained from the National Research Ethics Committee (CNER (Luxembourg)) and was authorised by the ministry of health in Luxembourg. Families receive written information with an informed consent form. Participation requires an informed consent form signed by the parents. The results will be disseminated in peer-reviewed publications, conference presentations and by public media to the general public.

Trial registration number: NCT05271305.

Keywords: Community child health; Lipid disorders; PUBLIC HEALTH; Paediatric endocrinology; VASCULAR MEDICINE.

PubMed Disclaimer

Conflict of interest statement

Competing interests: MB and DWD participated in a scientific advisory board of Daiichi Sankyo. AA, SH FF, MV, KW, BZ, SH, PM, VB and CdB have nothing to declare.

Figures

Figure 1
Figure 1
Study flowchart. FH, familial hypercholesterolaemia; GP, general practitioner; IMT, intima media thickness; LDL, low-density lipoprotein; precocious CVD: cardiovascular disease <60 years in men/<55 years in women; TC, total cholesterol.
Figure 2
Figure 2
Information material: flyer in four languages. Reproduced with permission from Centre hospitalier de Luxembourg.
Figure 3
Figure 3
English part of the questionnaire for parents.
See this image and copyright information in PMC

References

    1. Austin MA, Hutter CM, Zimmern RL, et al. . Familial hypercholesterolemia and coronary heart disease: a huge association review. Am J Epidemiol 2004;160:421–9. 10.1093/aje/kwh237 - DOI - PubMed
    1. Ference BA, Ginsberg HN, Graham I, et al. . Low-Density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European atherosclerosis Society consensus panel. Eur Heart J 2017;38:2459–72. 10.1093/eurheartj/ehx144 - DOI - PMC - PubMed
    1. Pang J, Martin AC, Mori TA, et al. . Prevalence of familial hypercholesterolemia in adolescents: potential value of universal screening? J Pediatr 2016;170:315–6. 10.1016/j.jpeds.2015.11.019 - DOI - PubMed
    1. Hu P, Dharmayat KI, Stevens CAT, et al. . Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis. Circulation 2020;141:1742–59. 10.1161/CIRCULATIONAHA.119.044795 - DOI - PubMed
    1. Beheshti SO, Madsen CM, Varbo A, et al. . Worldwide prevalence of familial hypercholesterolemia: meta-analyses of 11 million subjects. J Am Coll Cardiol 2020;75:2553–66. 10.1016/j.jacc.2020.03.057 - DOI - PubMed

Publication types

Associated data