Familial hypercholesterolaemia (FH) is the most encountered inherited metabolic disorder and is associated with premature cardiovascular disease.[1] Although early diagnosis is imperative for initiating timely lipid-lowering therapy and preventing atherosclerosis, most individuals with FH are undiagnosed, and treatment is often suboptimal even in the case of a definite diagnosis.[2,3] FH diagnosis involves a combination of clinical and genetic criteria [1], but their interplay can be intricate. Indeed, clinical manifestations might not align with causative variants, or clinically suspected FH may not be associated with causative variants.
