Screening for Familial Hypercholesterolemia in Childhood: An Overview of Current Practices Around the World

Area of Science:

• Cardiovascular Genetics
• Pediatric Cardiology
• Public Health Policy

Background:

• Familial hypercholesterolemia (FH) is a prevalent genetic disorder affecting 1 in 311 individuals globally.
• FH leads to severe hypercholesterolemia, early atherosclerosis, and premature cardiovascular death.
• Early diagnosis and treatment in childhood are crucial for reducing mortality.

Purpose of the Study:

• To evaluate and compare pediatric screening strategies for Familial hypercholesterolemia (FH) implemented globally.
• To examine the preferred screening schemes in European countries.
• To assess screening methods in the US, Canada, Australia, and Japan, and explore strategies in low-resource settings.

Main Methods:

• Comparative analysis of national pediatric screening strategies for FH.
• Review of screening schemes in Europe, North America, Australia, and Japan.
• Investigation of proposed screening strategies and challenges in low-resource countries.

Main Results:

• Significant variation exists in FH screening strategies across different countries.
• Pediatric screening has increased FH diagnoses in many regions.
• Low-resource countries face unique difficulties and limitations in implementing FH screening programs.

Conclusions:

• Global approaches to pediatric FH screening vary widely, from pilot studies to advanced proposals.
• Despite growing interest, implementing effective and equitable FH screening worldwide faces numerous unresolved challenges.
• Continued research and tailored strategies are needed to address global disparities in FH management.