What is Antithrombin Deficiency and Why Should You Care?
Published: Sep 19, 2023
Antithrombin deficiency is a rare condition that can lead to dangerous blood clots. Understanding this condition can help prevent serious health issues.
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What is Antithrombin Deficiency?
Antithrombin deficiency occurs when there is not enough antithrombin in the blood, a protein that helps control blood clotting. It can be inherited or acquired, and is associated with an increased risk of forming blood clots in veins. Inherited cases are due to mutations in the SERPINC1 gene, while acquired cases may result from conditions like liver disease or certain medications.
The Role of Antithrombin in the Body
Antithrombin is a natural anticoagulant that inhibits several enzymes involved in the blood clotting process, like thrombin and factor Xa. It requires heparin, a medication, to enhance its activity. Antithrombin's primary role is to prevent blood clots from forming too easily, maintaining normal blood flow in the body.
Symptoms and Diagnosis
Symptoms of antithrombin deficiency may include recurrent blood clots, often in the veins of the legs or lungs. Diagnosis typically involves blood tests to measure antithrombin activity. If levels are low, further genetic testing may be conducted to determine if the deficiency is inherited.
Frequently Asked Questions
It's a condition where the body lacks enough antithrombin, increasing the risk of blood clots.
Diagnosis involves blood tests to check antithrombin levels and possibly genetic tests.
Treatment often includes anticoagulant medications and, in some cases, antithrombin concentrates.
No, it's a rare condition affecting about 0.02 to 0.2 percent of the population.
Key Takeaways
Antithrombin deficiency is a serious but manageable condition with proper medical care.
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References
Khor B, Van Cott EM. Laboratory tests for antithrombin deficiency. Am J Hematol 2010; 85:947.
Patnaik MM, Moll S. Inherited antithrombin deficiency: a review. Haemophilia 2008; 14:1229.
Always discuss health information with your healthcare provider.