Diagnosis of FH

Simon Broome Criteria

Clinical Diagnosis of Familial Hypercholesterolaemia is made using the Simon Broome criteria, the Simon Broome criteria is based on:

• The characteristic lipid profile in FH
• A family history of hypercholestolaemia and/or premature ischaemic heart disease.
• The presence of tendon xanthomata (xanthelasmas) and premature corneal arcus may also be present but are not diagnostic).
   

A diagnosis of definite FH requires:

Cholesterol above 7.5mmol/l or LDL cholesterol above 4.9 mmol/l in an adult. Cholesterol above 6.7mmol/l or LDL cholesterol above 4 mmol/l in a child under 16.

PLUS

Tendon xanthomas in patient or a 1st degree relative (parent, sibling, child), or in a 2nd degree relative (grandparent, uncle, aunt).

OR

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

A diagnosis of possible FH requires:

Cholesterol above 7.5mmol/l or LDL cholesterol above 4.9 mmol/l in an adult.

Cholesterol above 6.7mmol/l or LDL cholesterol above 4 mmol/l in a child under16.

PLUS

Family history of myocardial infarction (MI): Before 50 years in a 2nd degree relative or below age 60 in a 1st degree relative.

OR

Family history of raised total cholesterol: Above 7.5mmol/l in adult 1st or 2nd degree relative or above 6.7mmol/l in a child or sibling aged under16 years.
 

Please Note: Cholesterol/LDL cholesterol levels should be those that were recorded before any cholesterol lowering medication was started. If this is not possible, then use the highest that was recorded on treatment.