Table 2. Diagnostic criteria of familial hypercholesterolemia (FH).

I. Hetero-FH
a) Clinical diagnostic criteria	Hypercholesterolemia with tendon xanthomas, or hypercholesterolemia in the first- or second-degree relatives of FH patients.
b) Genetic diagnostic criteria	Heterozygous mutations of FH genes.
II. Homo-FH
a) Clinical diagnostic criteria	Juvenile xanthomatosis with plasma cholesterol level about twice that of parents or other family members with hetero-FH
b) Genetic diagnostic criteria	True homozygotes, compound heterozygotes or double heterozygotes of FH genes

Hypercholesterolemia: Hyper-LDL-cholesterolemia

FH genes: LDLR gene, apolipoprotein B-100 (ApoB) gene, PCSK9 gene and STAP1 gene