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Antithrombin deficiency
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Antithrombin deficiency

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Contributors: Nina Haghi MD, Carla Casulo MD, Paritosh Prasad MD
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Synopsis

Antithrombin (AT) is an anticoagulant produced in the liver that inhibits thrombin, factor Xa, and other coagulation factors. AT deficiency can be either inherited (rare) or acquired, and it increases risk of venous thromboembolism (VTE). Prevalence of AT deficiency is approximately 0.02%-0.2% with no sex predominance.

Inherited AT deficiency results from AT gene mutation (SERPINC1, among others) that shows autosomal dominant inheritance. Inherited AT deficiency is further categorized into 2 subtypes. Type 1 deficiency refers to a mutation that causes reduced production of the protein. Type 2 deficiency refers to mutations that alter protein function. Type 2 defects result from mutation in the thrombin-binding site (reactive site defect, or RS), mutation in the heparin-binding site (heparin-binding site defect, or HBS; also the most common inherited type), or mutation at the carboxy-terminal end of the enzyme inhibitor (pleiotropic effect, or PE).

Acquired AT deficiency results from impaired production (due to liver disease, warfarin use, nephrotic syndrome, etc) or consumption (eg, acute thrombosis, disseminated intravascular coagulation). Other causes for reduced AT levels include extracorporeal membrane oxygenation (ECMO), hemodialysis, major surgery, asparaginase chemotherapy, oral contraceptive use, pregnancy-induced hypertension, preeclampsia, and eclampsia.

For more information on inherited AT deficiency, see OMIM.

Codes

ICD10CM:
D68.59 – Other primary thrombophilia

SNOMEDCT:
36351005 – Antithrombin III deficiency

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Best Tests

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Management Pearls

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Therapy

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Drug Reaction Data

Below is a list of drugs with literature evidence indicating an adverse association with this diagnosis. The list is continually updated through ongoing research and new medication approvals. Click on Citations to sort by number of citations or click on Medication to sort the medications alphabetically.

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References

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Last Reviewed: 09/11/2019
Last Updated: 09/13/2019
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Antithrombin deficiency
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Antithrombin deficiency
Copyright © 2019 VisualDx®. All rights reserved.