Antithrombin iii deficiency
A rare disorder characterized by the presence of low levels of antithrombin iii which prohibits the formation of blood clots.
Clinical features[edit | edit source]
It may lead to venous thrombosis and pulmonary embolism.
Types[edit | edit source]
Acquired and genetic types.
Congenital AT-III deficiency[edit | edit source]
- Also known as antithrombin III Deficiency;
- Congenital Antithrombin III Deficiency;
- Thrombophilia due to antithrombin III deficiency;
- Inherited antithrombin deficiency;
- Hereditary thrombophilia due to congenital antithrombin deficiency;
- Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Inheritance[edit | edit source]
It may be inherited, usually in an autosomal dominant pattern, or acquired.
Clinical features[edit | edit source]
- Hereditary antithrombin 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, DVT, leading to risk of 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.
Symptoms[edit | edit source]
Symptoms vary - most common symptoms are DVT, PE, which happens on a recurrent basis
80%-99% of people have these symptoms
- Reduced antithrombin antigen
- Reduced antithrombin III activity
30%-79% of people have these symptoms
- Deep venous thrombosis
- Loss of pregnancy]]
- Pulmonary embolism
- Recurrent thromboembolism
- Superficial thrombophlebitis
5%-29% of people have these symptoms
- Arterial thrombosis
- Hepatic vein thrombosis
- Mesenteric venous thrombosis
- Portal vein thrombosis
- Recurrent spontaneous abortion
- Retinal vein occlusion
1%-4% of people have these symptoms
Less common symptoms
- Arterial occlusion
- Recurrent thrombophlebitis
Diagnosis[edit | edit source]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis.
Genetic testing[edit | edit source]
The Genetic Testing Registry (GTR) is a useful resource
Treatment[edit | edit source]
- 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.
FDA-Approved Treatments[edit | edit source]
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.
Recombinant human antithrombin (Brand name: Atryn®) - Manufactured by GTC Biotherapeutics, Inc.
FDA-approved indication: Prevention of peri-operative and peri-partum thromboembolic events, in hereditary antithrombin deficient patients.
Antithrombin III (human) (Brand name: Thrombate III) - Manufactured by Grifols United States
FDA-approved indication: For replacement therapy in congenital deficiency of AT-III for prevention and treatment of thrombosis and pulmonary emboli.
Prognosis[edit | edit source]
The prognosis depends on the degree of antithrombin deficiency, the nature of the clots formed, and the number of clots formed.
Anticoagulation[edit | edit source]
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 after careful evaluation of the potential risks and benefits.
Also see[edit | edit source]
Antithrombin iii deficiency Resources | ||
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