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    Dutch Criteria for Familial Hypercholesterolemia (FH)

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

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

    • Assigns points to risk factors and stratifies likelihood of diagnosis into one of four categories: definite, probable, possible, and unlikely.
    • Requires DNA testing for completeness.
    • FH is underdiagnosed and carries significant mortality risk from cardiac events.
    • The European Atherosclerosis Society recommends that the Dutch Criteria be used to diagnose FH.
    • Alternative diagnostic criteria include US MEDPED and the Simon Broome Diagnostic 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.
    Entry Criterion

    If yes, 9+ additional criteria required for Definite FH

    No
    Yes

    Result:

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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

     

    Criteria

    Points

    Family history

     

    First-degree relative with known premature* coronary and vascular disease, OR

    First-degree relative with known LDL-C level above the 95th percentile

    1

    First-degree relative with tendinous xanthomata and/or arcus cornealis, OR

    Children <18 years with LDL-C level above the 95th percentile

    2

    Clinical history

     

    Patient with premature* coronary artery disease

    2

    Patient with premature* cerebral or peripheral vascular disease

    1

    Physical examination

     

    Tendinous xanthomata

    6

    Arcus cornealis prior to age 45 years

    4

    Cholesterol level, mmol/L (mg/dL)

     

    LDL-C ≥8.5 (330)

    LDL-C 6.5 - 8.4 (250 - 329)

    LDL-C 5.0 - 6.4 (190 - 249)

    LDL-C 4.0 - 4.9 (155 - 189)

    8

    5

    3

    1

    DNA analysis – functional mutation LDLR, apoB and PCSK9

    1


    * Premature = <55 years in men; <60 years in women.

    From the National Lipid Association Resource Center.

    Facts & Figures

    Score interpretation:

    Stratification Total Score
    Definite familial hypercholesterolemia >8
    Probable familial hypercholesterolemia 6-8
    Possible familial hypercholesterolemia 3-5
    Unlikely familial hypercholesterolemia <3

    Evidence Appraisal

    The Dutch Criteria were constructed by the Dutch Lipid Clinic Network to identify patients with familial hypercholesterolemia based on known risk factors.

    Literature

    Dr. Melissa Austin

    About the Creator

    Melissa Austin, PhD, MS, is a professor emeritus of epidemiology at the University of Washington. Her research spans many areas including genetic epidemiology of chronic diseases, lipoprotein metabolism and pancreatic cancer.

    To view Dr. Melissa Austin's publications, visit PubMed