Clinical Biochemistry - Lipid Clinic

Simon Broome diagnostic criteria for index individuals

Diagnose a person with definite familial hypercholesterolaemia (FH) if they have -

Total cholesterol

Adult > 7.5 mmol/L (LDL > 4.9 mmol/L)

Child > 6.7 mmol/L (LDL > 4.0 mmol/L)

and tendon xanthomas, or evidence of these signs in first- or second-degree relative

or

DNA-based evidence of an LDL-receptor mutation, familial defective apo B-100, or a PCSK9 mutation.

Diagnose a person with possible FH if they have cholesterol concentrations as defined above and at least one of the following.

Family history of myocardial infarction: aged younger than 50 years in second-degree relative or aged younger than 60 years in first-degree relative.

Family history of raised total cholesterol -

> 7.5 mmol/L in adult first- or second-degree relative or

> 6.7 mmol/L in child, brother or sister aged younger than 16 years.