Antithrombin III deficiency synonyms
What other names are the Antithrombin III deficiency known by? Synonyms and other terms with which Antithrombin III deficiency is known.
Antithrombin III deficiency is a medical condition characterized by a deficiency of antithrombin III, a natural anticoagulant protein in the blood. This deficiency increases the risk of developing abnormal blood clots, known as thrombosis, which can lead to serious health complications.
Antithrombin III deficiency is also referred to as AT III deficiency or antithrombin deficiency. It is an inherited disorder caused by mutations in the SERPINC1 gene, which provides instructions for producing antithrombin III. These mutations result in reduced levels or impaired function of the protein, leading to an imbalance in the blood clotting process.
Individuals with antithrombin III deficiency may experience recurrent venous thromboembolism, which includes deep vein thrombosis (DVT) and pulmonary embolism (PE). DVT occurs when a blood clot forms in a deep vein, usually in the legs, while PE occurs when a clot travels to the lungs. These clots can be life-threatening if not promptly diagnosed and treated.
Diagnosis of antithrombin III deficiency involves blood tests to measure the levels of antithrombin III in the blood. Genetic testing may also be performed to identify specific mutations in the SERPINC1 gene. Early detection is crucial to prevent complications and guide appropriate treatment.
Treatment for antithrombin III deficiency typically involves the use of anticoagulant medications, such as heparin or warfarin, to prevent the formation of blood clots. In certain situations, antithrombin III concentrate may be administered to increase the levels of the protein in the blood. Additionally, lifestyle modifications, such as regular exercise, maintaining a healthy weight, and avoiding smoking, can help reduce the risk of clot formation.
In conclusion, antithrombin III deficiency is a genetic disorder that predisposes individuals to abnormal blood clotting. Early diagnosis and appropriate management are essential to prevent potentially life-threatening complications associated with thrombosis.
