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    Simon Broome Diagnostic Criteria for Familial Hypercholesterolemia (FH)

    Diagnoses familial hypercholesterolemia (FH) based on clinical, genetic and family history.
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    When to Use
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    Why Use

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

    • 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, probable, and unlikely.
    • May have limited validity in non-British populations.
    • Requires DNA testing for complete data.
    • 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.
    mg/dL
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    Next Steps
    Evidence
    Creator Insights

    Advice

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

    Formula

    Selection of appropriate criteria.

    Facts & Figures

    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
    Probable 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

    Evidence Appraisal

    The Simon Broome Register was developed in 1980 in the UK, funded by the widow of a patient named Simon Broome, who died prematurely from coronary heart disease. The diagnostic criteria were developed and validated in a prospective cohort study of 526 patients with confirmed heterozygous FH (Simon Broome Register Group 1991).

    The study’s objective was to examine mortality in patients with FH. Patients were age 20-74 years at the time of registration and had biochemically confirmed heterozygous FH.

    The investigators found that by using the selected criteria, age-specific cardiac-related mortality in younger FH patients (age 20-39 years) was increased 100-fold compared to the general population, with overall mortality increased 10-fold.

    Similar findings were reported in a subsequent study in 1999 by the same group. They also found that initiating lipid-lowering therapy improved cardiac-related mortality, but non-cardiac mortality was not increased at any age (RR for all ages 0.68, 0.45-0.99).

    Literature

    Dr. John Betteridge

    About the Creator

    John Betteridge, BSc, MB BS, PhD, MD, FRCP, FAHA, is a practicing endocrinologist at University College London. He is a past chairman of HEART UK and past president of the Council on Lipids in Clinical Medicine at The Royal Society of Medicine. Prof Betteridge is an active researcher with over 300 publications in peer-reviewed journals, with a focus in diabetes and lipid management.

    To view Dr. John Betteridge's publications, visit PubMed