Skip to main content

Antithrombin Deficiency

Severe thrombophilia; recurrent thrombosis; anticoagulation; antithrombin replacement if needed.

Key Information

  • Hematology specialist evaluation recommended
  • Blood tests essential for diagnosis
  • Multiple treatment options available
  • Ongoing monitoring important

About Antithrombin Deficiency

Severe thrombophilia; recurrent thrombosis; anticoagulation; antithrombin replacement if needed.

For comprehensive information about diagnosis, treatment options, and management, consult with a hematologist or your healthcare provider.

Frequently asked

Common questions about Antithrombin Deficiency.

Quick, plain-English answers to what people ask us most.

  • What is antithrombin deficiency?

    Antithrombin deficiency is an inherited or, less commonly, acquired condition where reduced levels of antithrombin, a natural blood-thinning protein, increase the risk of abnormal blood clot formation.

  • What causes antithrombin deficiency?

    Inherited forms result from genetic mutations affecting antithrombin production or function, while acquired forms can result from liver disease, certain medications, or conditions causing significant protein loss.

  • What are the symptoms of antithrombin deficiency?

    The main symptom is an increased tendency to develop blood clots, particularly deep vein thrombosis or pulmonary embolism, often occurring at a younger age than typical or without an obvious trigger.

  • Is antithrombin deficiency dangerous?

    Yes, it significantly increases the risk of potentially serious blood clots, including pulmonary embolism, making appropriate preventive treatment important, particularly during higher-risk situations like surgery or pregnancy.

  • Is antithrombin deficiency genetic?

    Yes, the inherited form is a genetic condition, typically following an autosomal dominant pattern, meaning an affected parent has a 50% chance of passing it to each child.

  • Can antithrombin deficiency be treated?

    Yes, treatment focuses on preventing clots with blood-thinning medication, particularly during high-risk periods, and specific antithrombin concentrate can be used in certain situations like major surgery or acute clotting events.

  • How is antithrombin deficiency treated?

    Treatment typically involves long-term blood-thinning medication after a first clotting event, with additional preventive measures such as antithrombin concentrate or adjusted anticoagulation during high-risk periods like surgery or pregnancy.

  • How is antithrombin deficiency diagnosed?

    Diagnosis involves specific blood tests measuring antithrombin levels and activity, ideally performed when not on blood thinners or during a stable period, sometimes combined with genetic testing to confirm an inherited cause.

  • Antithrombin deficiency vs Factor V Leiden — what's the difference?

    Both are inherited clotting risk factors, but antithrombin deficiency involves reduced levels of a specific natural anticoagulant protein, generally carrying a higher relative clotting risk, while Factor V Leiden involves a specific mutation making a clotting factor resistant to natural regulation; both are identified through different specific blood tests.

  • When should I see a doctor about possible antithrombin deficiency, and how quickly can I be seen privately?

    See a doctor for unexplained blood clots, particularly at a young age or with a family history. NHS haematology referral can take several weeks, while private specialist assessment is often available within about two weeks.