Alternate Names : Deficiency – antithrombin III – congenital, Antithrombin III deficiency – congenital
Definition
Congenital antithrombin III deficiency is a genetic disorder that causes the blood to clot more than normal.
Overview, Causes, & 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.
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.
Pictures & Images
Venous blood clot
Deep venous thrombosis (DVT) affects mainly the veins in the lower leg and the thigh. It involves the formation of a clot (thrombus) in the larger veins of the area.
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Congenital antithrombin III deficiency : Overview, Causes, & Risk Factors
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Congenital antithrombin III deficiency : Symptoms & Signs, Diagnosis & Tests
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Congenital antithrombin III deficiency : Treatment
Review Date : 3/2/2009
Reviewed By : 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.
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