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Familial hypercholesterolemia (Simon broome criteria), DNA-based evidence…
Familial hypercholesterolemia (Simon broome criteria)
Definite Familial Hypercholesterolemia
Required laboratory = high cholesterol levels:
• Adult = Total cholesterol levels > 290 mg/dL (7.5 mmol/L) or LDL-C > 190 mg/dL (4.9 mmol/L)
• Child less than 16 years of age = Total cholesterol levels > 260 mg/dL (6.7 mmol/L) or LDL-C > 155 mg/dL (4.0 mmol/L)
Plus at least one of the two:
Plus physical finding = tendon xanthomas, or tendon xanthomas in first or second degree relative
OR
DNA-based evidence of an LDL-receptor mutation, familial defective apo B-100, or a PCSK9 mutation.
Possible familial hypercholesterolemia
Laboratory = high cholesterol levels:
• Adult = Total cholesterol levels > 290 mg/dL (7.5 mmol/L) or LDL-C > 190 mg/dL (4.9 mmol/L)
• Child less than 16 years of age = Total cholesterol levels > 260 mg/dL (6.7 mmol/L) or LDL-C > 155 mg/dL (4.0 mmol/L)
Plus at least one of the two:
Family history of at least one of the following.
Family history of myocardial infarction at:
• Age 60 years or younger in first degree relative
• Age 50 years or younger in second-degree relative
OR
Family history of elevated total cholesterol
Greater than 290 mg/dL (7.5 mmol/L) in adult first- or second-degree relative
Greater than 260 mg/dL (6.7 mmol/L) in child, brother or sister aged younger than 16 years
DNA-based evidence of an LDL-receptor mutation, familial defective apo B-100, or a PCSK9 mutation.