Table 10a.

Simon Broome diagnostic criteria for Familial Hypercholesterolemia [181], [182].

Definite Familial Hypercholesterolemia:

•Adult with total cholesterol levels ​≥ ​290 ​mg/dL ( > 7.5 mmol/L) or LDL-C ​≥ ​190 ​mg/dL ( > 4.9 ​mmol/L)

•Child ​< ​16 years of age with total cholesterol levels ​≥ ​260 ​mg/dL ( > 6.7 ​mmol/L) or LDL-C ​≥ ​155 ​mg/dL ( > 4.0 ​mmol/L)

PLUS EITHER

•Tendon xanthomas, or tendon xanthomas in a first degree relative (parent, sibling or child) or second degree relative (grandparent, aunt, or uncle)

OR

•Deoxynucleic acid (DNA)-based evidence of an LDL receptor mutation, familial defective apo B-100, or a PCSK9 mutation

Possible Familial Hypercholesterolemia:

•Adult with total cholesterol levels ​≥ ​290 ​mg/dL ( > 7.5 ​mmol/L) or LDL-C ​≥ ​190 ​mg/dL ( > 4.9 ​mmol/L)

•Child ​< ​16 years of age with total cholesterol levels ​≥ ​260 ​mg/dL ( > 6.7 ​mmol/L) or LDL-C ​≥ ​155 ​mg/dL ( > 4.0 ​mmol/L)

PLUS FAMILY HISTORY OF AT LEAST ONE OF THE FOLLOWING:

•Family history of myocardial infarction in first degree relative ​< ​age 60 years or second-degree relative ​< ​age 50 years

•Family history of an adult first- or second-degree relative with elevated total cholesterol ​≥ ​than 290 ​mg/dL ( > 7.5 ​mmol/L) or child, brother or sister aged ​< ​16 years with total cholesterol ​≥ ​than 260 ​mg/dL ( > 6.7 ​mmol/L)