Universal paediatric screening for familial hypercholesterolaemia: Lessons learnt from our pilot study EARLIE

Area of Science:

• Pediatrics
• Cardiology
• Genetics

Background:

• Universal screening for familial hypercholesterolaemia (FH) is proposed but not widely implemented.
• School-based medical visits offer a potential setting for pediatric screening.
• Current screening strategies and cut-off values require review.

Purpose of the Study:

• To assess the feasibility and efficacy of a school-based capillary blood test for FH screening in children.
• To review existing FH screening strategies and recommended cut-off values.
• To evaluate the impact of parental presence on follow-up adherence.

Main Methods:

• A pilot study involving a questionnaire and capillary blood test for children aged 7-12 years.
• Diagnostic work-up included fasting lipid profiles and genetic analysis for children with elevated cholesterol (Total Cholesterol >230 mg/dL or LDL >160 mg/dL).
• Confirmed FH cases initiated lipid-lowering therapy and family-wide reverse cascade screening.

Main Results:

• A participation rate of 49.8% (1860/3733 children) was achieved, with a low refusal rate (1.6%).
• The recall rate for further testing was 1%.
• In a sub-cohort with LDL >160 mg/dL, three pathogenic variants were detected, along with five additional affected family members, though three families declined follow-up.

Conclusions:

• Capillary lipid panel-based FH screening is an efficient method for early detection in children.
• A significant proportion (50%) of children with highly suspicious results declined further follow-up.
• Screening with parental presence is recommended to enhance understanding and adherence to diagnostic and therapeutic recommendations.