Simon Broome Diagnostic Criteria for Familial Hypercholesterolemia (FH)

Why Use

Patients with FH are at increased risk for coronary heart disease, yet many patients remain undiagnosed. NICE guidelines for FH recommend using the Simon Broome criteria for diagnosis of FH in the UK. Other accepted criteria for diagnosis of FH include the US MEDPED Criteria and the Dutch Criteria . The risk factors in each criteria set are similar, and clinical judgment as well as local practice factors (similarity of target population to study population) should be considered.

When to Use

Patients suspected to have familial hypercholesterolemia (FH) by clinical and laboratory features.

Formula

Pearls / Pitfalls

The Simon Broome Diagnostic Criteria for FH are the most widely used criteria for diagnosing FH in the UK. Stratifies likelihood into one of three categories: definite, possible, and unlikely. May have limited validity in non-British populations. Requires DNA testing for complete data.

Advice

Consider lifestyle changes, drug therapy, family testing, and other measures to manage FH if diagnosed.

More Information

Simon Broome Diagnosis Criteria for Familial Hypercholesterolemia: Diagnosis Criteria Definite FH Cholesterol >7.5 mmol/L or LDL-cholesterol >4.9 mmol/L in adult Cholesterol >6.7 mmol/L or LDL-cholesterol >4.0 mmol/L in a child under 16 years of age PLUS Tendon xanthomas in patient or a 1st degree relative (parent, sibling, child), or in a 2nd degree relative (grand parent, uncle, aunt) OR DNA based evidence of a functional LDLR, PCSK9 and APOB mutation Possible FH Cholesterol >7.5 mmol/L or LDL-cholesterol >4.9 mmol/L in adult Cholesterol >6.7 mmol/L or LDL-cholesterol >4.0 mmol/L in a child under 16 years of age PLUS Family History of myocardial infarction (MI) before 50 years of age in a 2nd degree relative or below age 60 in a 1st degree relative OR Family history of raised total cholesterol – >7.5 mmol/L in adult 1st or 2nd degree relative or >6.7 mmol/L in a child or sibling aged <16 years