Antithrombin III deficiency pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Ramyar Ghandriz MD[2]
Overview
Pathophysiology
Physiology
- 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.
Pathogenesis
- 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.
Genetics
- 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.
- The gene for antithrombin is located on human chromosome 1.