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Antithrombin deficiency
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Antithrombin deficiency

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Contributors: Carla Casulo MD
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Synopsis

Antithrombin (AT) deficiency is a rare congenital or acquired condition in which low levels of AT III cause inappropriate venous clot formation. It manifests as venous thrombosis. Pulmonary embolism may result. In affected individuals, pregnancy increases the chances of blood clots, and miscarriage is more common.

Congenital AT deficiency is passed through autosomal dominant inheritance. Offspring of affected patients will inherit the disorder in approximately 50% of cases. Acquired AT deficiency is caused by conditions or therapies that lower blood levels of AT. It is typically less serious than the hereditary version and can be reversed by treating the causal condition.

Therapy is anticoagulation during thromboembolic events or AT replacement as prophylaxis.

Codes

ICD10CM:
D68.59 – Other primary thrombophilia

SNOMEDCT:
36351005 – Antithrombin III deficiency

Differential Diagnosis & Pitfalls

Best Tests

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References

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Last Updated: 06/01/2016
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Antithrombin deficiency
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Antithrombin deficiency : Bedridden patient
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