Table 1 Simon Broome Register Group of FH

A definite diagnosis of FH requires:

 (a) Total cholesterol level above 7.5 mmol/L (290 mg/dl) in adults or a total cholesterol level above 6.7 mmol/L (260 mg/dl) for children under 16 OR LDL-c levels above 4.9 mmol/L (190 mg/dL) in adults (4.0 mmol/L in children) (either pretreatment or highest on treatment) PLUS

 (b) tendon xanthomas in patient or relative (parent, child, sibling, grandparent, aunt, uncle) OR

 (c) DNA-based evidence of an LDL receptor mutation or familial defective apo B-100

Possible FH is defined as (a) above plus one (d) or (e):

 (d) Family history of myocardial infarction before age 50 in grandparent, aunt, uncle or before age 60 in parent, sibling or child.

 (e) Family history of raised cholesterol in parent sibling or child, or level above 7.5 mmol/L (290 mg/dl) in grandparent, uncle, aunt