Pilot study of universal screening of children and child‐parent cascade testing for familial hypercholesterolaemia in Australia

Aim Familial hypercholesterolaemia (FH) is a common and treatable cause of premature coronary artery disease. However, the majority of individuals with FH remain undiagnosed. This study investigated the feasibility, acceptability and cost‐effectiveness of screening children aged 1–2 years for FH at the time of an immunisation. Methods Children 1–2 years of age were offered screening for FH with a point‐of‐care total cholesterol (TC) test by capillary‐collected blood sample at the time of an immunisation. An additional blood sample was taken to allow genetic testing if the TC level was above the 95th percentile (>5.3 mmol/L). Parents of children diagnosed with FH were offered testing. Following detection of the affected parent, cascade testing of their first‐degree blood relatives was performed. Results We screened 448 children with 32 (7.1%) having a TC ≥ 5.3 mmol/L. The FH diagnosis was confirmed in three children (1:150 screened). Reverse cascade testing of other family members identified a further five individuals with FH; hence, eight new cases of FH were diagnosed from screening 448 children (1:56 screened). Ninety‐six percent of parents would screen future children for FH. The approach was cost‐effective, at $3979 per quality‐adjusted life year gained. Conclusion In Western Australia, universal screening of children aged 1–2 years for FH, undertaken at the time of an immunisation, was a feasible and effective approach to detect children, parents and other blood relatives with FH. The approach was acceptable to parents and is potentially a highly cost‐effective detection strategy for families at risk of FH.