Antithrombin iii deficiency
Antithrombin III Deficiency
Antithrombin III deficiency (pronounced as an-ti-throm-bin three de-fi-ciency) is a rare genetic disorder that results in abnormal blood clotting, which can lead to severe health complications such as deep vein thrombosis and pulmonary embolism.
Etymology
The term "Antithrombin III deficiency" is derived from the protein "Antithrombin III" which is responsible for inhibiting thrombin, a key enzyme in the process of blood clotting. The term "deficiency" refers to the reduced level or absence of this protein in the body.
Causes
Antithrombin III deficiency is caused by mutations in the SERPINC1 gene, which provides instructions for producing antithrombin III. This deficiency can be inherited in an autosomal dominant manner, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.
Symptoms
Symptoms of Antithrombin III deficiency may include swelling, pain, redness, and warmth in the affected area, usually the leg. In severe cases, it can lead to life-threatening conditions such as deep vein thrombosis and pulmonary embolism.
Diagnosis
Diagnosis of Antithrombin III deficiency involves blood tests to measure the level of antithrombin III in the body. Genetic testing may also be performed to identify mutations in the SERPINC1 gene.
Treatment
Treatment for Antithrombin III deficiency typically involves anticoagulant medications to prevent blood clots. In some cases, antithrombin III concentrates may be used to increase the level of this protein in the body.
Related Terms
External links
- Medical encyclopedia article on Antithrombin iii deficiency
- Wikipedia's article - Antithrombin iii deficiency
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