Clinical Diagnosis of Familial Hypercholesterolaemia is made using the Simon Broome criteria, the Simon Broome criteria is based on:
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.
Tendon xanthomas in patient or a 1st degree relative (parent, sibling, child), or in a 2nd degree relative (grandparent, uncle, aunt).
DNA-based evidence of an LDL receptor mutation, familial defective apoB-100, or a PCSK9 mutation.
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.
Family history of myocardial infarction (MI): Before 50 years in a 2nd degree relative or below age 60 in a 1st degree relative.
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.