Population-based screening for familial hypercholesterolaemia

Abstract

Familial hypercholesterolaemia (FH) is among the most common monogenic disorders, affecting at least 1 in 250 individuals. Lifelong elevation of LDL cholesterol from birth can cause accelerated atherosclerosis and premature cardiovascular disease. However, the vast majority of affected children (and adults) remain undiagnosed. Population-based childhood screening, combining LDL cholesterol measurement with genetic testing, enables early diagnosis and treatment. This review summarizes evidence on childhood FH screening, including disease burden, treatment efficacy, diagnostic performance, and economic considerations. Although no randomized trial has compared screened and unscreened populations, extensive indirect evidence supports the benefit of early detection and lipid-lowering therapy.