Table 10

 Criteria for clinical diagnosis of familial hypercholesterolaemia (FH)

Criteria from the Simon Broome Research Trust.56
Definite FH
(1) Total cholesterol concentration >7.5 mmol/l (either pre-treatment or highest on treatment) in adults over 16 years, or LDL cholesterol >4.9 mmol/l
Plus
(2) Either tendon xanthomata in the person or a 1st or 2nd degree relative and/or DNA-based evidence of an LDL receptor mutation or familial defective apoB-100
Possible FH
(1) Total cholesterol concentration >7.5 mmol/l (either pre-treatment or highest on treatment) in adults over 16 years, or LDL cholesterol >4.9 mmol/l
plus one of the following
(2) Family history of myocardial infarction before age 50 years in 2nd degree relative or before age 60 years in 1st degree relative
(3) Family history of raised total cholesterol >7.5 mmol/l in 1st or 2nd degree relative