[Detection and treatment of familial hypercholesterolaemia; the earlier, the better?]

Area of Science:

• Cardiology
• Genetics
• Public Health

Background:

• Familial hypercholesterolaemia (FH) is a genetic condition leading to high cholesterol.
• Early statin treatment in childhood may reduce adult cardiovascular events.
• The Dutch cascade screening program for FH ended in 2013, leaving many undiagnosed.

Purpose of the Study:

• To assess the long-term impact of childhood statin initiation on cardiovascular events in FH patients.
• To highlight the importance of continued active screening for FH in families.

Main Methods:

• Retrospective analysis of patients with familial hypercholesterolaemia.
• Evaluation of long-term statin treatment initiated during childhood.
• Assessment of cardiovascular event rates and adverse effects.

Main Results:

• Childhood statin treatment in FH patients reduced adult cardiovascular event risk.
• No serious adverse effects like rhabdomyolysis were observed.
• Decreased detection rates of new FH cases since the cessation of active cascade screening.

Conclusions:

• Early, long-term statin therapy in childhood is effective for managing FH.
• Active screening of family members, including children, is crucial for identifying undiagnosed FH cases.
• Continued efforts are needed to trace and treat the significant number of undiagnosed FH patients.