European and Canadian derived risk prediction equations for atherosclerotic cardiovascular disease are valid in Australian patients with genetically confirmed familial hypercholesterolaemia.

Familial hypercholesterolaemia (FH) is a co-dominantly inherited condition that leads to enhanced risk of atherosclerotic cardiovascular disease (ASCVD). We evaluated and compared the discriminatory ability of the SAFEHEART Risk Equation (SAFEHEART-RE), FH-Risk-Score (FHRS), and Combined-FH-Score (CFHS) in predicting incident ASCVD events among Australian patients with heterozygous FH (HeFH). We collected clinical data from 655 adult patients with genetically confirmed HeFH. Cox proportional hazards regression models were used to assess the association between risk prediction equations and incident ASCVD. Model discrimination was assessed with receiver-operator characteristic curves and Harrell C statistics from proportional hazard regression. A total of 53 ASCVD events occurred over a median follow-up of 6 years. Patients with high (above-median) SAFEHEART-RE (≥3.53), FHRS (≥14.97), and CFHS (≥22) had significantly increased risk of incident ASCVD, with hazard ratios of 11.63 (95% confidence interval [CI] 3.60-37.59), 4.61 (95%CI 2.05-10.33), and 4.60 (95%CI 2.05-10.31), respectively. The 10-year SAFEHEART-RE had the highest discriminatory ability, with a C-statistic of 0.767 (95%CI 0.706-0.827), followed by the FHRS (0.735; 95% CI 0.667-0.801) and the CFHS (0.698; 95% CI 0.627-0.766). In the primary prevention setting, the 10-year SAFEHEART-RE also had the higher discriminatory ability (0.802; 95%CI 0.711-0.888) compared with the FHRS (0.733; 95% CI 0.612-0.836) and CFHS (0.748; 95% CI 0.648-0.839). In Australian patients with HeFH, the SAFEHEART-RE and FHRS were valid for predicting ASCVD events and showed similar discriminatory ability, while SAFEHEART-RE showed superior performance compared with the CFHS.