Familial hyperchoelsterolaemia (FH) remains under-diagnosed and under-treated in the community setting. Earlier evidence suggested a prevalence of 1:500 worldwide but newer evidence suggests it is more common. Less than 15% of FH patients are ever diagnosed, with children and young adults rarely tested despite having the most to gain given their lifetime exposure. Increasing awareness among primary care teams is critical to improve the detection profile for FH. Cascade testing in the community setting needs a sustainable approach to be developed to facilitate family tracing of index cases. The use of the Dutch Lipid Clinic Network Criteria score to facilitate a phenotypic diagnosis is the preferred approach adopted in Australia and eliminates the need to undertake genetic testing for all suspected FH cases.
Keywords: Dutch Lipid Clinic Network Criteria; cardiovascular disease; cascade testing; familial hypercholesterolaemia; index case; phenotypic testing; prevalence; primary–tertiary care management; statins.