Hereditary antithrombin deficiency
Hereditary antithrombin deficiency
Definition
A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).
Also known as antithrombin 3 deficiency, Antithrombin Deficiency, antithrombin III deficiency, AT3D, congenital antithrombin III deficiency, congenital AT-III deficiency, hereditary antithrombin deficiency, hereditary thrombophilia due to congenital antithrombin 3 deficiency, hereditary thrombophilia due to congenital antithrombin deficiency, inherited antithrombin deficiency, thrombophilia 7 due to antithrombin III deficiency, thrombophilia due to antithrombin 3 deficiency, thrombophilia due to antithrombin III deficiency — per MONDO