Table 2. Simon Broome diagnostic criteria for FH.
Type | Criteria | |
---|---|---|
Definite FH | If they have a cholesterol level as defined below and tendon xanthomas, or these signs in 1st- or 2nd-degree relatives or DNA-based evidence of LDLR, APOB, or PCSK9 mutation | |
Possible FH | If they have a cholesterol level as defined below and at least one of the following: | |
Family history of MI: at age <50 yr in 2nd-degree relative or at age <60 yr in 1st-degree relative | ||
Family history of high TC: >7.5 mmol/L (290 mg/dL) in adult 1st- or 2nd-degree relative or >6.7 mmol/L (260 mg/dL) in child, brother or sister aged <16 yr | ||
Cholesterol level | Child: TC, >6.7 mmol/L (260 mg/dL); LDL-C, >4.0 mmol/L (155 mg/dL) | |
Adult: TC, >7.5 mmol/L (290 mg/dL); LDL-C, >4.9 mmol/L (190 mg/dL) |
FH, familial hypercholesterolemia; LDL-C, low-density lipoprotein-cholesterol; MI, myocardial infarction; TC, total cholesterol.