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Don’t fight Hereditary antithrombin deficiency alone.
Find your community on the free RareGuru App.Hereditary antithrombin deficiency , also known as antithrombin III deficiency or AT III deficiency, is a disorder in which individuals are at increased risk for developing blood clots. The type of blood clots seen in individuals with this condition are typically clots that form in the deep veins of the leg (deep vein thrombosis or DVT) and clots that lodge in the lungs (pulmonary embolism or PE). Approximately 50% of individuals with hereditary antithrombin deficiency will develop one or more clots in their lifetime, usually after adolescence. Factors that may increase the likelihood of clotting include pregnancy, the use of oral contraceptives, surgery, increasing age, and a lack of movement. Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene and is typically inherited in an autosomal dominant manner.
Source: GARD Last updated on 05-01-20
The prognosis depends on the degree of antithrombin deficiency, the nature of the clots formed, and the number of clots formed. Patients with recurring clots are more likely to suffer a life-threatening clotting event in the future and are best treated with indefinite Warfarin therapy.
Last updated on 05-01-20
Once a patient with hereditary antithrombin deficiency develops a clot, anticoagulation therapy (usually Warfarin) is often indicated. The duration of therapy after a first clot, especially in children, is a matter of some controversy, but therapy is generally continued for 3-6 months. Individuals who experience a second clot are at a significant risk for future clotting and are candidates for long-term Warfarin therapy. Asymptomatic individuals are often not treated with anticoagulation therapy. Should surgery be necessary, individuals with hereditary antithrombin deficiency may receive antithrombin III concentrate or fresh frozen plasma to boost antithrombin levels.
Last updated on 05-01-20
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