State-of-the-art review: The value of leveraging evidence and data (LEAD) in pediatric screening for familial...

Area of Science:

• Cardiovascular Medicine
• Genetics
• Public Health

Background:

• Familial hypercholesterolemia (FH) is a prevalent genetic lipid disorder causing lifelong high LDL cholesterol and early cardiovascular disease.
• Despite evidence supporting pediatric screening, FH remains underdiagnosed and undertreated globally, particularly in the US.
• Current pediatric lipid screening practices are suboptimal and controversial, hindering early FH detection.

Purpose of the Study:

• To review barriers to universal pediatric lipid screening for FH.
• To identify innovative process solutions to improve screening prevalence in children.
• To explore strategies for increasing the frequency of universal pediatric lipid screening.

Main Methods:

• The Family Heart Foundation's LEAD Pediatric Initiative was launched to address testing barriers and outcomes.
• A state-of-the-art review of common challenges and creative process solutions for pediatric lipid screening.
• Analysis of presentations from the 2024 Family Heart Foundation Global Summit.

Main Results:

• Identified significant barriers hindering widespread pediatric lipid screening for FH.
• Highlighted creative process solutions and innovative practices to enhance screening.
• Demonstrated potential for improvement science to measure outcomes of screening initiatives.

Conclusions:

• Addressing barriers and implementing innovative solutions are crucial for improving pediatric FH screening.
• Increased universal pediatric lipid screening can lead to earlier diagnosis and intervention.
• The LEAD Initiative provides a framework for advancing FH detection and management in children.