Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations

Area of Science:

• Cardiology
• Public Health
• Genetics

Background:

• Familial hypercholesterolaemia (FH) is under-recognized and under-treated in Europe.
• This leads to a significantly higher risk of premature heart disease in affected individuals.
• Early treatment is highly effective in preventing heart disease and is cost-effective.

Purpose of the Study:

• To highlight the critical need for FH screening in Europe.
• To advocate for the implementation of FH screening programs across all European countries.
• To emphasize the importance of early detection and intervention for cardiovascular disease prevention.

Main Methods:

• Review of existing FH screening strategies in Europe.
• Analysis of model programs including cascade screening, universal cholesterol screening, and opportunistic screening.
• Recommendations for national FH screening program development and implementation.

Main Results:

• FH screening is recognized by the European Commission as an effective public health strategy.
• Various screening models exist, including cascade screening of relatives, universal cholesterol screening, and opportunistic screening.
• The need for tailored national programs supported by government funding is emphasized.

Conclusions:

• Every country in Europe should establish a dedicated FH screening program.
• Programs should be adapted to national healthcare systems and supported by government funding.
• Further research is needed to optimize FH care and implementation strategies.