Antithrombin III deficiency (patient information)
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Antithrombin III deficiency |
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Antithrombin III deficiency On the Web |
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Directions to Hospitals Treating Antithrombin III deficiency |
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Risk calculators and risk factors for Antithrombin III deficiency |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Lakshmi Gopalakrishnan, M.B.B.S.
Overview
Congenital antithrombin III deficiency is a genetic disorder that causes the blood to clot more than normal.
What are the symptoms of Antithrombin III deficiency?
Patients will usually have symptoms of a blood clot, including:
- Coughing up blood
- Fainting
- Shortness of breath and pain when taking deep breaths
- Swelling of one leg
What causes Antithrombin III deficiency?
- Antithrombin III is a protein in the blood that naturally blocks blood clots from forming. Congenital antithrombin III deficiency is an inherited disease. It occurs when a person receives one abnormal copy of a gene from a parent with the disease.
- The abnormal gene leads to low levels of antithrombin III. These low levels of antithrombin III can cause abnormal blood clots (thrombi) that may damage organs.
- Often, patients with this condition will have a blood clot at a young age and will have a family member who has also experienced a blood clotting episode. In people with this condition, a blood clot may occur without the common risk factors of pregnancy, lack of movement (due to surgery or trauma), or use of oral birth control pills.
Diagnosis
- A physical examination may show:
- Abnormal lung sounds
- Fast breathing
- Fast heart rate
- Swollen foot or leg
- The diagnosis is made by checking for low levels of antithrombin III in the patient's blood. There are several techniques for checking these levels.
When to seek urgent medical care?
See your health care provider if you have symptoms of this condition.
Treatment options
A blood clot is treated with blood thinning medications (also called anticoagulants). How long you need to take these medications depends on how serious the blood clot was and other factors. Discuss this with your health care provider.
Where to find medical care for Antithrombin III deficiency?
Directions to Hospitals Treating Antithrombin III deficiency
Prevention
Because this is an inherited condition, there is no way to prevent it. However, once a patient is diagnosed with antithrombin III deficiency, all close family members should be screened.
What to expect (Outlook/Prognosis)?
Most patients have a good outcome if they stay on anticoagulant medications.
Possible complications
Blood clots can cause death, especially if they are in the lungs.