[Early detection of familial hypercholesterolemia: The Vroni study]

Abstract

Familial Hypercholesterolemia (FH), affecting 1 in 150-250 people, poses a significant cardiovascular risk. In the German Vroni Study, children aged 5-14 successfully screens for FH, combining LDL-C measurement with genetic testing. Early intervention reduces cardiovascular risks to general population levels. Over 28,000 children have been screened, identifying FH mutations in 1%. High acceptance rates among parents highlight feasibility. Vroni's approach, including reverse cascade screening for relatives, paves the way for integrating FH detection into routine care, advancing cardiovascular prevention.

Keywords: Familial hypercholesterolemia; LDL-C; Vroni study; genetic testing; screening.