Paediatric familial hypercholesterolaemia in Australia: a real-world registry study

Objective To describe the characteristics, detection and management of children and adolescents with familial hypercholesterolaemia (FH) enrolled in the Australian National FH Registry. Design Cross-sectional registry analysis. Setting 17 specialist lipid clinics across Australia. Patients 341 children and adolescents under 18 years of age with FH, enrolled between February 2015 and March 2026. Interventions None, observational study. Main outcome measures Age at enrolment, mode of FH detection, uptake of genetic testing, lipid-lowering therapy patterns, attainment of low-density lipoprotein-cholesterol (LDL-C) goals and testing of lipoprotein(a) [Lp(a)]. Results The mean age at enrolment was 11.9 years; 51.4% were male and 53.5% were index cases. Only 52.6% had undergone genetic testing. The mean untreated LDL-C was 6.2 mmol/L. At follow-up, 85.4% were on lipid-lowering therapy, with 91.3% on a moderate-intensity or high-intensity statin but only 12.7% received combination therapy with ezetimibe. The mean treated LDL-C was 3.8 mmol/L and only 48.3% achieved the guideline-recommended goal. Factors associated with goal attainment included a lower pre-treatment LDL-C and use of lipid-lowering therapy. Lp(a) was tested in only 33.7% of children. Conclusions This study reveals five critical gaps in the care of Australian children with FH: late diagnosis after the recommended age to commence therapy; non-attainment of LDL-C goals despite treatment; under-utilisation of genetic testing; infrequent cascade testing and infrequent testing of Lp(a). Addressing these gaps demands a coordinated multilevel response, including a universal childhood FH screening programme coupled with state-based cascade testing hubs and rigorous implementation of evidence-based paediatric guidelines.