Familial hypercholesterolemia (FH) (MONDO:0007750) is a genetically determined monogenic disorder of predominantly autosomal dominant inheritance, which leads to a significant increase in low-density lipoprotein cholesterol (LDL-C) and the development and progression of atherosclerosis [1]. Early diagnosis of FH is the cornerstone for timely initiation of lipid-lowering therapy and prevention of cardiovascular disease (CVD). The diagnostic efficiency of FH relies on screening based on clinical and genetic criteria [1,2].
