The Simon Broome diagnostic criteria for familial hypercholesterolemia

ATotal 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)
BTendon xanthomas in the patient or in a first- or second-degree relative
CDNA-based evidence of a mutation in LDLR, APOB, or PCSK9
DFamily history of myocardial infarction before age 50 in a second-degree relative, or before age 60 in a first- degree relative
ETotal 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.