2nd April 2024

Diagnosis

Simon Broome’s diagnostic criteria for FH include cholesterol levels, clinical characteristics, molecular diagnosis, and family history. A definitive diagnosis of FH is made when:

• Total cholesterol > 6.7 mmol/L or LDL-C > 4.0 mmol/L in a child aged younger than 16 years OR 
• Total cholesterol > 7.5 mmol/L or LDL-C > 4.9 mmol/L in an adult PLUS at least one of the two:
  • Tendon xanthomas in first- or second-degree relatives OR
  • DNA evidence of LDL receptor mutation, familial defective apo-B-100, or PCSK9 mutation

FH may be suspected with the cholesterol values above, plus one of the following:

• Myocardial infarction at age 60 years or younger in a first-degree relative or age 50 years or younger in a second-degree relative OR
• Total cholesterol > 7.5mmol/L in a first or second-degree adult relative or > 6.7mmol/L in a child, brother, or sister less than 16 years. 

Cardiovascular risk assessment 

The QRISK assessment is a primary prevention tool used to evaluate the 10-year CVD risk in those up to and including age 84. Statin therapy, usually atorvastatin 20 mg daily, should be offered to those with a total CVD risk of over 10%. 

Those over age 85 or who have existing CVD, T1DM, CKD or familial hypercholesterolemia do not require QRISK stratification as they are regarded as at increased risk of CVD events. 

All adults with T1DM aged over 40 years, or who have had diabetes for more than 10 years or, established nephropathy, or with other CVD risk factors, are recommended 20 mg daily of atorvastatin.