Antithrombin III Deficiency

Antithrombin III Deficiency
Antithrombin III Deficiency

antithrombin III deficiency is a rare disease that predisposes individuals to developing potentially serious blood clots. a genetic mutation impairs the body’s ability to produce functional antithrombin III enzymes, which play an important role in preventing coagulation. without treatment, a severe deficiency can cause life-threatening blood clots in the lungs, heart or elsewhere in the body. Most cases of antithrombin III deficiency can be effectively treated with daily doses of anticoagulant drugs.

a clot can cause a variety of symptoms, depending on its location and size. deep vein thrombosis in a leg is the most common place for a blood clot in people with the disorder and can cause leg swelling and throbbing pain. Additional symptoms may include shortness of breath, dizziness, a bloody cough, and full-body weakness.
Most cases of antithrombin III deficiency is diagnosed before patients experience dangerous blood clots. routine blood tests for other conditions can reveal unusually low levels of antithrombin and increased activity of enzymes bind. genetic testing can confirm that a patient does not bear actually a specific genetic mutation. imaging tests like ultrasounds and echocardiographer is usually performed to screen for existing clots and check for possible damage in the heart, liver, kidneys and other organs.

people who have antithrombin III deficiencies, but do not develop symptoms may not need treatment. Instead, doctors generally recommend that they attend regular health checkups to ensure that problems do not arise. on blood clot occurs, patients started on a daily regimen of anticoagulant drugs such as warfarin, heparin, or synthetic antithrombin. Surgery may be needed to break up a large blood clot in an emergency.

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