Table 15. Simon Broome criteria for the diagnosis of heFH.
Definite FH | If the patient has |
1) cholesterol level as defined* and tendon xanthoma, or evidence of these signs in first- or second degree relative or | |
2) DNA-based evidence of an LDL-receptor mutation, familial defective apo B-100, or a PCSK9 mutation | |
Possible FH | If the patient has cholesterol level as defined* and at least one of the following |
1) family history of myocardial infarction: aged <50 years in second-degree relative or aged <60 years in first degree relative. | |
2) family history of raised total cholesterol: >290 mg/dL in adult first- or second degree relative or >260 mg/dL in child, brother or sister aged <16 years. |
heFH, heterozygous hypercholesterolemia; FH, familial hypercholesterolemia; DNA, deoxyribonucleic acid; LDL, low density lipoprotein; apo-B, apolipoprotein B; PCSK9, proprotein convertase subtilisin/kexin type 9.
*Total cholesterol >260 mg/dL or LDL-C >155 mg/dL (child/young person); total cholesterol 290 mg/dL or LDL-C >190 mg/dL (adult).