Clinical predictors of positive genetic testing in heterozygous familial hypercholesterolemia

Background and Aims: The diagnostic pathway of familial hypercholesterolaemia (FH) involves a step whereby patients clinically suspected to have FH should have the diagnosis confirmed through genetic testing (GT) (gold standard for FH diagnosis). However, availability and accessibility to GT is resource-dependent and usually restricted to specialised lipid clinics. We aimed to identify what clinical factors may be associated with a positive GT among subjects with a clinical suspicion of FH.