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Evolving paradigm in thrombophilia screening.

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Genetic thrombophilia screening is not routinely indicated for venous thromboembolism (VTE) management. Screening does not change treatment for most patients, including those with inherited hypercoagulable states.

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Area of Science:

  • Hematology
  • Genetics

Background:

  • Venous thromboembolism (VTE) is a significant health concern.
  • Identifying a hypercoagulable state through genetic thrombophilia screening is a diagnostic consideration.

Purpose of the Study:

  • To evaluate the role of genetic thrombophilia screening in managing venous thromboembolism.
  • To determine if thrombophilia screening impacts clinical management decisions.

Main Methods:

  • Systematic literature search of MEDLINE and EMBASE (1995-2017).
  • Review of clinical practice guidelines from major hematology and obstetrics/gynecology professional bodies.
  • Search terms included: venous thromboembolism, inherited, thrombophilia, hypercoagulable state.

Main Results:

  • Thrombophilia screening does not alter management in pregnancy, infertility, recurrent miscarriages, primary arterial syndromes, or for primary prevention in relatives.
  • Routine screening is not indicated for VTE as it is only useful in select patients.
  • No difference in VTE treatment exists between patients with or without inherited hypercoagulable states.

Conclusions:

  • Routine genetic thrombophilia screening is not recommended for the general management of venous thromboembolism.
  • Clinical decisions and treatment for VTE remain consistent regardless of thrombophilia status in most cases.