Thrombophilia testing: Update, guidelines in the greyzones

Angelillo-Scherrer, Anne; Nagler, Michael (2016). Thrombophilia testing: Update, guidelines in the greyzones. Therapeutische Umschau, 73(10), pp. 626-634. Huber 10.1024/0040-5930/a000843

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Thrombophilias are hereditary or acquired conditions predisposing patients to thromboembolism. Testing for thrombophilia
is commonly performed in patients with venous thromboembolism (VTE) and their relatives. However, no consensus
exists for such testing that also usually does not provide information that impacts management. We review thrombophilia
testing in the following clinical situations: Provoked VTE, unprovoked (idiopathic) VTE, in relatives of patients with VTE, in female
relatives of patients with VTE considering estrogen use, in female relatives of patients with VTE who are considering
pregnancy. We also propose a list of thrombophilia parameters to test and the timing of thrombophilia testing. We suggest that
thrombophilia testing not be performed in most situations. When performed, it should be used in a highly selective manner,
and only in circumstances where the information obtained will impact a decision important to the patient, and outweigh the
potential risks of testing. Testing could also be requested by the patient on a subjective basis. Therefore a pre-test counseling
as well as a proper interpretation of laboratory tests are mandatory. Testing should not be performed during acute VTE nor during
the initial 3-month period of anticoagulation.

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