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Screening for familial hypercholesterolaemia in primary school children: protocol for a cross-sectional, feasibility

Marianne Becker1,2, Aurélie Adamski3, Françoise Fandel4

  • 1Pediatric Endocrinology and Diabetology (DECCP), Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg becker.marianne@chl.lu.

BMJ Open
|January 4, 2023
PubMed

Insights

This pilot study explores screening for familial hypercholesterolaemia (FH) in primary school children using a simple blood test. Early FH detection can prevent premature cardiovascular disease.

Area of Science:

  • Pediatrics
  • Cardiology
  • Genetics

Background:

  • Familial hypercholesterolaemia (FH) is an inherited condition causing early cardiovascular disease.
  • Early detection and treatment of FH are crucial for preventing premature death.
  • Current FH screening methods may not reach all affected individuals effectively.

Purpose of the Study:

  • To investigate the prevalence of FH in primary school children.
  • To assess the feasibility and efficacy of a school-based screening program for FH.
  • To evaluate a screening approach using capillary blood tests during routine school medical visits.

Main Methods:

  • A cross-sectional study involving 3200 children aged 7-12 years in Luxembourg.
  • Capillary blood tests performed by a study nurse to analyze lipid profiles.
  • Informed consent obtained from parents; results provided with medical advice referrals and potential cascade screening.

Main Results:

  • The primary outcome is the confirmed prevalence of FH in the study population.
  • Secondary outcomes include screening participation rates and identification of affected family members.
  • A health economic analysis will also be conducted.

Conclusions:

  • School-based screening for FH in children is a feasible approach for early detection.
  • Identifying FH in childhood can lead to timely interventions and prevent long-term cardiovascular complications.
  • This pilot study provides a foundation for broader implementation of pediatric FH screening programs.
Abstract

Keywords:
Community child healthLipid disordersPUBLIC HEALTHPaediatric endocrinologyVASCULAR MEDICINE

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