Who should be tested for thrombophilia?

Abstract

Purpose of review: The purpose of this review is to identify on the basis of available data and expert opinions who would benefit most from screening for thrombophilia.

Recent findings: Recent studies have clearly defined the risk of venous thromboembolism in members of families with inherited thrombophilia. Meta-analyses have shown the role of the most common thrombophilic conditions in increasing the risk of recurrent venous thromboembolism in carriers. Screening for thrombophilia in venous thromboembolism patients might help identify those at higher risk of recurrences even though it is unclear how this information can be of use in modifying their management. Thrombophilia seems to play a role in early fetal losses as also shown in women at their first intended pregnancy, which makes it interesting to screen women after only one bad pregnancy outcome.

Summary: Screening for thrombophilia can be performed particularly in young patients with venous thromboembolism. Carriers of inherited thrombophilia are at increased risk of venous thromboembolism recurrences. Screening families of venous thromboembolism patients with thrombophilia allows the identification of still asymptomatic carriers who may benefit from thromboprophylaxis. This may be true of women in fertile age belonging to thrombophilic families. In thrombophilic women with pregnancy complications prophylaxis may be offered to prevent recurrences.