Antithrombin III deficiency is a rare genetic disease that increases the risk of blood clots, which can be life-threatening. It can be managed with blood-thinning medications, and symptoms may include leg swelling, shortness of breath, and weakness. Regular health checkups are recommended for those with the condition.
Antithrombin III deficiency is a rare disease that predisposes individuals to developing potentially serious blood clots. A genetic mutation compromises the body’s ability to make the antithrombin III enzymes, which play a vital role in preventing clotting, functional. Without treatment, severe deficiency can lead to life-threatening clots in the lungs, heart, or other parts of the body. Most cases of antithrombin III deficiency can be effectively managed with daily doses of blood-thinning medications.
There is normally a careful balance of enzymes in the bloodstream; enzymes like thrombin and factor X keep the blood from becoming too thin, and chemicals like antithrombin III and heparin keep the blood from thickening. In case of antithrombin III deficiency, clotting enzymes thrive and the risk of clotting is high.
There are two main types of antithrombin III deficiency, both of which are inherited in an autosomal dominant pattern. In type one, a genetic mutation impairs the body’s ability to make new antithrombin. In type two, there are approximately normal levels of the enzyme, but it doesn’t work properly.
Many people who inherit antithrombin III deficiency have never had a bleeding disorder or other health problem. Symptoms are most likely to occur in your 30s, although it is possible for clots to occur much earlier or later in life. The risk of developing clots is increased in people who smoke or have high blood pressure, high cholesterol and obesity.
A blood clot can cause a variety of symptoms depending on its location and size. Deep vein thrombosis in one of the legs is the most common place for a 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 weakness throughout the body.
Most cases of antithrombin III deficiency are diagnosed before patients develop dangerous clots. Routine blood tests for other conditions might reveal unusually low levels of antithrombin and increased clotting enzyme activity. Genetic testing can confirm that a patient does indeed carry a specific genetic mutation. Imaging tests such as ultrasounds and echocardiographs are usually done to screen for existing clots and to check for damage to the heart, liver, kidneys, and other organs.
People who have antithrombin III deficiencies but don’t develop symptoms may not need treatment. Instead, doctors generally recommend attending regular health checkups to make sure no problems arise. If clotting occurs, patients are started on a daily regimen of anticoagulant drugs, such as warfarin, heparin, or synthetic antithrombin. You may need surgery to break up a large blood clot in an emergency.
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