Congenital Antithrombin Deficiency

Common Name(s)

Congenital Antithrombin Deficiency

Congenital antithrombin deficiency is an inherited condition that increases the risk of abnormal blood clots. Normally, blood clots collect around wounds to stop bleeding, forming a scab. However, when a blood clot abnormally forms in the bloodstream it can travel through the body and block blood flow to important organs. A lowered level of antithrombin, an anti-clotting protein normally found in the bloodstream, influences the formation of abnormal blood clots in people with this condition. About half of people with congenital antithrombin have at least one abnormal clot during their life, and are particularly at risk for clots that occur deep in the veins of the leg (called deep vein thrombosis). If this type of clot becomes dislodged, it can become stuck in the blood vessels of the lungs, causing a serious condition called pulmonary embolism. Women with congenital antithrombin deficiency are at an increased risk of developing an abnormal clot during and soon-after pregnancy, and have an increased risk for miscarriage and stillbirth. The condition is inherited in an autosomal dominant pattern, meaning only one affected gene is needed to cause the condition. Although there is no cure for the condition, there are many ways to help lower the risk of blood clots and health emergencies caused by them, such as avoiding long periods of physical inactivity and having good exercise habits. Medications can also be used to decrease risks of blood clot formation. In addition, be aware of abnormal blood clot symptoms: swelling, redness, and/or pain in the affected area.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Antithrombin Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Antithrombin Deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

Pulmonary thromboembolectomy in congenital antithrombin III deficiency associated with acute pulmonary embolism -report of a case-.
 

Author(s): Junichiro Takahashi, Masamichi Ito, Jun Okude, Toshihiro Gohda, Yutaka Wakamatsu, Shigeyuki Sasaki, Keishu Yasuda

Journal: Ann Thorac Cardiovasc Surg. 2003 Jun;9(3):192-6.

 

Antithrombin III (AT III) deficiency is a rare hereditary disease that predisposes to thromboembolic complications. We report a case of AT III deficiency complicated with acute pulmonary thromboembolism, successfully treated with emergency pulmonary thromboembolectomy after insertion ...

Last Updated: 23 Jul 2003

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Detection of multiple thromboembolism in congenital antithrombin III deficiency with indium-111-platelet scintigraphy.
 

Author(s): K Kawasugi, K Gohchi, Y Kuniyasu, J Matsuda, T Kinoshita

Journal: J. Nucl. Med.. 1994 Nov;35(11):1811-4.

 

Congenital deficiency of antithrombin III (AT III), a physiological inhibitor of blood coagulation, may lead to increased thromboembolism. Here, we report a case of multiple thromboembolism associated with congenital AT III deficiency. The diagnosis of systemic thromboembolism was ...

Last Updated: 12 Dec 1994

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Elevated factor Xa activity in the blood of asymptomatic patients with congenital antithrombin deficiency.
 

Author(s): K A Bauer, T L Goodman, B L Kass, R D Rosenberg

Journal: J. Clin. Invest.. 1985 Aug;76(2):826-36.

 

The presence of congenital antithrombin deficiency has been consistently shown to predispose patients to venous thrombosis. We have utilized the prothrombin fragment F1+2 radioimmunoassay to quantitate factor Xa activity in the blood of 22 asymptomatic individuals with this clinical ...

Last Updated: 2 Oct 1985

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Antithrombin Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 21 Jul 2014

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