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

Area of Science:

• Pediatrics
• Cardiovascular Health
• 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 FH screening using capillary blood tests in children.
• To evaluate the effectiveness of school-based screening for FH.
• To review existing FH screening strategies and determine appropriate cut-off values.

Main Methods:

• A pilot study involving a questionnaire and capillary blood test for children aged 7-12 years.
• Diagnostic work-up included fasting blood tests and genetic analysis for children with elevated total cholesterol (TC) or low-density lipoprotein cholesterol (LDL).
• Confirmed FH cases initiated lipid-lowering therapy and reverse cascade screening within families.

Main Results:

• A participation rate of 49.8% was achieved, with only 1.6% refusing the blood test.
• Median TC was 158 mg/dL and median LDL was 74 mg/dL.
• In a sub-cohort with LDL >160 mg/dL, three pathogenic variants were detected, along with five additional affected family members, though three declined follow-up.

Conclusions:

• Capillary lipid panel-based FH screening is an efficient method.
• A significant proportion (50%) of highly suspicious cases declined further follow-up.
• Screening with parental presence is advocated to enhance understanding and follow-up, with adaptable cut-off levels.