The Simon Broome diagnostic criteria for familial hypercholesterolemia
Criteriona | Description |
---|---|
A | Total cholesterol level > 290 mg/dL or LDL-C > 190 mg/dL in adults (age ≥ 16) |
Total cholesterol level > 260 mg/dL or LDL-C > 155 mg/dL in children (age < 16) | |
B | Tendon xanthomas in the patient or in a first- or second-degree relative |
C | DNA-based evidence of a mutation in LDLR, APOB, or PCSK9 |
D | Family history of myocardial infarction before age 50 in a second-degree relative, or before age 60 in a first- degree relative |
E | Total cholesterol > 290 mg/dL in a first- or second-degree relative |
↵a “Definite” familial hypercholesterolemia requires criterion C by itself, or criterion A plus B; “probable” familial hypercholesterolemia requires either A plus D, or A plus E.
Information from the Simon Broome Register Group, reference 25.