Screening

There are no definitive guidelines for screening. Screening of the general population is not recommended.

Screening may be appropriate in selected groups, such as family members with a known familial thrombophilia, or those at high risk for venous thromboembolism (VTE): that is, women who are pregnant, or about to start oral birth control pills or estrogen therapy; patients on chemotherapy; and patients who are to undergo high-risk surgery.​[128][126]​​​​ However, screening for thrombophilia is controversial and at-risk groups are not routinely screened.

Identification of thrombophilia may enable avoidance of thrombosis by risk factor modification. It may also facilitate targeted thromboprophylaxis strategy in at-risk situations such as hospitalization. However, the benefits may be offset by potential anxiety arising from a positive test and a theoretical impact on obtaining health insurance or employment.[126]​​

If performed, genetic counseling should be provided before the screening tests to enable informed consent and explanation of risks/benefits of the test.[144]

While the risk of VTE in women using the combined oral birth control pill is greater in those with thrombophilia than in those without thrombophilia, the absolute risk for pulmonary embolism remains low at 6 in 100,000 per year.[145] Avoiding the use of the combined oral birth control pill in those with a family history of VTE (before age 45 years) may be preferable to screening.[144][146]

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