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Congenital antithrombin III deficiency

  • Definition

    Congenital antithrombin III deficiency is a genetic disorder that causes the blood to clot more than normal.


    Alternative Names

    Deficiency - antithrombin III - congenital; Antithrombin III deficiency - congenital


    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.

    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.