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Interdisciplinary recommendations for thrombophilia testing

Eva Drbohlavová, Jaromír Gumulec, Alena Buliková

    Casopis Lekaru Ceskych
    |January 30, 2026
    PubMed

    Insights

    This consensus standardizes the diagnosis and care for patients with thrombophilias, which increase the risk of venous thromboembolic disease. It guides when and how to test for these conditions, ensuring evidence-based medicine is followed.

    Area of Science:

    • Internal Medicine
    • Hematology
    • Genetics

    Background:

    • Thrombophilias, factors increasing venous thromboembolic disease risk, require standardized diagnostic and care protocols.
    • Existing diagnostic tests for thrombophilias are widely available but lack unified recommendations in the Czech Republic.

    Purpose of the Study:

    • To establish evidence-based guidelines for the diagnosis and management of congenital and acquired thrombophilias.
    • To standardize patient care by defining appropriate testing circumstances, clinical situations, patient selection, and test utilization.

    Main Methods:

    • Interdisciplinary consensus involving four medical societies.
    • Development of recommendations based on evidence-based medicine principles.

    Main Results:

    • The consensus outlines specific criteria for investigating thrombophilias.
    • It clarifies when testing is indicated and when it is not, based on clinical context.

    Conclusions:

    • Standardized, evidence-based guidelines are crucial for managing patients with thrombophilias.
    • These recommendations aim to improve the consistency and quality of care for thrombophilic disorders.

    Keywords:
    JAK2 mutationPNH cloneVenous thromboembolismarterial thrombosiscongenital and acquired thrombophiliasvenous thromboembolism

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