Stephen J. Schueler, M.D.

Overview Symptoms

Congenital Antithrombin III Deficiency Overview

What is congenital antithrombin III deficiency?
Antithrombin III is a protein that is essential for normal blood clot formation. A person with congenital antithrombin III deficiency has a genetic disorder that causes the blood to clot more than normal. Congenital antithrombin III is an inherited disease that occurs when one parent has an abnormal copy of a gene (autosomal dominant) that codes for the creation of antithrombin III. The net result is abnormally low antithrombin III levels in the bloodstream and excessive blood clot formation that can damage internal organs.

What are the symptoms of congenital antithrombin III deficiency?
The symptoms of congenital antithrombin III deficiency usually begin after the age of 20. Symptoms of congenital antithrombin III deficiency include coughing up blood, unilateral leg swelling, fainting, recurrent miscarriages, and shortness of breath.

How does the doctor treat congenital antithrombin III deficiency?
Treatment of congenital antithrombin III deficiency includes daily treatment with anticoagulants or blood thinning medications.

Continue to Congenital Antithrombin III Deficiency Symptoms

Last Updated: May 24, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Congenital Antithrombin III Deficiency References
  1. Subar M. Clinical evaluation of hypercoagulable states. Clin Geriatr Med. 2001 Feb;17(1):57-70, vi. [11270134]
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