Thrombophilia testing in asymptomatic patients

Mark Crowther, MD, MSc, is a professor of medicine, chair of the Department of Medicine, and Leo Pharma Chair in Thromboembolism Research at McMaster University.

In what situations should patients with no history of thrombosis be tested for thrombophilia? Should the testing be performed in women planning hormonal contraception or menopausal hormone therapy?

The question of doing thrombophilia testing in patients who’ve not had a history of venous thromboembolism is one that is actually pretty straightforward and that is that you should almost never do it. There is no evidence that, for example, screening asymptomatic patients before the use of oral contraceptive therapy might modify their outcome. In general, we would strongly recommend against this procedure being performed.

There are selected patients in whom it might be indicated. For example, if you had a patient who had a very strong family history of something like antithrombin deficiency and you were considering starting her on birth control pills, you might consider doing testing because you might recommend she not take the birth control pill.

Let’s give an example. A woman whose mother and sister had a pulmonary embolism, she now is before you, they are known to have antithrombin deficiency. The question is, should she be tested? In that circumstance I might test her because if she does have antithrombin deficiency, it would both lead me to recommend against the use of oral contraceptive pills and in addition it would lead me to give her some recommendations around how she can prevent venous thromboembolism.

But again, only in highly selected patients who have very specific circumstances would I be recommending asymptomatic screening. In the large majority of cases asymptomatic screening is just not indicated.