Deficiency – antithrombin III – congenital; Antithrombin III deficiency – congenital
Definition of Congenital antithrombin III deficiency
Congenital antithrombin III deficiency is a genetic disorder that causes the blood to clot more than normal.
Causes, incidence, and risk factors
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.
Patients will usually have symptoms of a blood clot, including:
Signs and tests
A physical examination may show:
A blood clot is treated with blood thinning medications or 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.
Most patients have a good outcome if they stay on anticoagulant medications.
David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 3/2/2009