Thrombophilia > updated 3-5-05

What is thrombophilia?

Thrombophilia is the tendency for people to develop blood clots unexpectedly. Blood clots may form either in arteries or veins and may cause symptoms depending on which organ or part of the body is affected. Patients with thrombophilia often develop blood clots in a vein in the leg. This may cause pain and swelling. If a clot breaks up or moves, damage may occur to other organs, such as the lungs.

Patients with thrombophilia have an imbalance in blood proteins that control clotting. Some of the inherited protein imbalances which may cause clotting include: Factor V Lieden, Protein C deficiency, Protein S deficiency, Antithrombin III deficiency and the Prothrombin 20210 mutation. Acquired risk factors include: immobility, obesity, smoking or taking birth control pills.

What are the signs & symptoms?

• Development of blood clots in a vein or artery in a manner that would not usually be expected.
• Development of blood clots without any known risk factors.
  

How is thrombophilia diagnosed?

Thrombophilia is diagnosed by special blood tests. Testing should be arranged by physicians familiar with these disorders.

How is thrombophilia treated?

Patients who have thrombophilia and develop clots are treated with blood-thinning medicines called anticoagulants. These medicines are given intravenously or by mouth. Anticoagulants interfere with blood clotting and thereby prevent new clots and allow existing blood clots to dissolve.