THROMBOPHILA PROFILE

Thrombophilia (hypercoagulability or a prothrombotic state) is an abnormality of blood coagulation that increases the risk of thrombosis (blood clots in blood vessels). Such abnormalities can be identified in people who have an episode of thrombosis (such as deep vein thrombosis in the leg).

SYMPTOMS

The conditions associated with thrombophilia are deep vein thrombosis (DVT) and pulmonary embolism (PE), which are referred as venous thromboembolism (VTE). DVT usually occurs in the legs, and is characterized by pain, swelling and redness of the limb. The clot may also break off and migrate (embolize) to arteries in the lungs. Depending on the size and the location of the clot, this may lead to shortness of breath, chest pain, palpitations and may be complicated by collapse, shock and cardiac arrest.

Thrombophilia has been linked to recurrent miscarriages and other complications of pregnancy such as intrauterine growth restriction, stillbirth, severe preeclampsia and abruptio placentae.

Protein C deficiency may cause purpura fulminans, a severe clotting disorder in the new born that leads to tissue death and bleeding into the skin and other organs. Protein C and protein S deficiency have also been associated with an increased risk of skin necrosis on commencing anticoagulant treatment with warfarin or related drugs.

Lab tests include molecular diagnosis, functional assays and immunological assays.