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    US (MEDPED) Diagnostic Criteria for Familial Hypercholesterolemia (FH)

    Diagnoses familial hypercholesterolemia using age, family history, and total cholesterol.
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    Patients with suspected familial hypercholesterolemia (FH), including those with elevated cholesterol and/or personal or family history of premature cardiac events.

    Uses three easily obtainable parameters to diagnose familial hypercholesterolemia.

    • FH is underdiagnosed and carries significant mortality risk from cardiac events.
    • Alternative diagnostic criteria include the Dutch Criteria and the Simon Broome Diagnostic Criteria. Of the three, MEDPED is the only one that does not require genetic testing for diagnosis.
    • 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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    Advice

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

    Facts & Figures

    US (MEDPED) Diagnostic Criteria cutoff values compared to the general population:

    Total cholesterol cutpoints in mg/dL (mmol/L)
    Age (years) First Degree relative with FH Second Degree relative with FH Third Degree relative with FH General Population
    <20 220 (5.7) 230 (5.9) 240 (6.2) 270 (7)
    20-29 240 (6.2) 250 (6.5) 260 (6.7) 290 (7.5)
    30-39 270 (7) 280 (7.2) 290 (7.5) 340 (8.8)
    ≥40 290 (7.5) 300 (7.8) 310 (8) 360 (9.3)

    Evidence Appraisal

    The US MEDPED (Make Early Diagnosis to Prevent Early Death) Diagnostic Criteria were constructed by Williams et al and published in 1993 by studying 207 patients in 5 large FH pedigrees in Utah and setting different cholesterol cut-off points for age. Using their predefined criteria, they diagnosed FH with 98% specificity and 87% sensitivity with confirmation from genetic testing.

    Dr. Roger R. Williams

    About the Creator

    Roger R. Williams, MD, (d. 1998) was a professor of internal medicine at the University of Utah School of Medicine. He was the founder and director of the University of Utah Cardiovascular Genetics Research Clinic. Williams was an active researcher helping develop effective tools for evaluating and helping families with strong familial predisposition to early coronary disease, stroke, hypertension, diabetes, breast cancer and morbid obesity

    To view Dr. Roger R. Williams's publications, visit PubMed