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Antithrombin deficiency: causes, symptoms, diagnosis, treatment

Medical expert of the article

Dr. Fredi AVIV.

Hematologist, oncohematologist

Alexey Kryvenko, medical expert
Last reviewed: 07.07.2025

Epidemiology
Forms

Diagnostics
Treatment
Who to contact?
More information of the treatment

Antithrombin is a protein that inhibits thrombin and factors Xa, IXa, Xla.

Epidemiology

The prevalence of heterozygous plasma antithrombin deficiency is 0.2 to 0.4%. Half of heterozygous individuals develop venous thrombosis. Homozygous deficiency results in fetal death in utero. Acquired deficiency occurs in patients with DIC, liver disease, nephrotic syndrome, and during heparin or L-asparaginase therapy.

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Forms

The prothrombin gene mutation 20210 results in elevated plasma prothrombin levels and an increased risk of venous thromboembolism.

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Diagnostics antithrombin deficiency

Laboratory determination of deficiency involves quantification of plasma thrombin inhibitor in the presence of heparin.

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Who to contact?

Hematologist

Treatment antithrombin deficiency

Oral warfarin is used to prevent venous thromboembolism in antithrombin deficiency.

More information of the treatment

Diet for anemia