[Importance of thrombophilia screening]

Thrombophilia testing denotes a test battery for inherited or acquired features associated with a tendency for clot formation. Currently, it is being used in a frequency and to an extent which is not supported by evidence. In order to protect patients from unnecessary worry and stigmatization, but also for reasons of cost effectiveness, thrombophilia testing should be reduced to a very small number of medically justifiable indications which are outlined in this review.Those indications include the following: secondary prevention of venous thromboembolism in patients from a thrombophilic family, i.e., with two or more first degree relatives with venous thromboembolism (VTE), or patients with suspected antiphospholipid syndrome; women prior to oral contraception or planning to become pregnant if they had no prior VTE but have one or more first-degree relatives with VTE-provided they are willing to follow the consequences of positive test results; women with recurrent miscarriage. The inappropriate indications are discussed as well.The test panel for inherited thrombophilias includes deficiencies of antithrombin, protein C and protein S, factor V Leiden and prothrombin 20210 mutation. Patients with suspicion of antiphospholipid syndrome have to be tested for lupus anticoagulans, anti-cardiolipin antibodies, and anti-β2-glycoprotein I-antibodies. It is important to do the blood sampling at an appropriate point in time.