Thrombophilia

Thrombophilia (sometimes called hypercoagulability) is a condition in which the blood has a higher than normal tendency to clot inside the blood vessels. The condition can be either hereditary (present at birth) or acquired.

Two common conditions associated with it are deep vein thrombosis (DVT) and pulmonary embolisms (PE). Together, these are called venous thromboembolism (VTE). DVTs primarily form in the legs, and pulmonary embolism is a blood clot that lodges in the arteries connected to the lungs—usually traveling there from elsewhere in the body.

Symptoms of DVT include edema (swelling), leg pain, tenderness, and warmth or redness of the skin over the site. Symptoms of PE included sudden shortness of breath, chest pain and cough (sometimes coughing blood), syncope (fainting), great apprehension and anxiety, fast breathing and heart rate, fever, and blue coloration of the skin. Symptoms of DVT and PE sometimes overlap.

There is no specific treatment for thrombophilia, but repeated episodes usually call for preventive anticoagulation therapy with warfarin or related drugs.

Testing for the condition is not always necessary or helpful, but children who may benefit include adolescents with spontaneous thrombosis and teenage females with a family history of thrombophilia who are making choices about contraception. The hormones in oral contraceptives have been associated with at least a doubling of the risk of venous thrombosis.

 

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