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Deficiency of antithrombin: causes, symptoms, diagnosis, treatment

 
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Last reviewed: 23.04.2024
 
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Antithrombin is a protein that inhibits thrombin and factors Xa, IXa, Xla.

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Epidemiology

The prevalence of heterozygous deficiency of plasma antithrombin is from 0.2 to 0.4%. Venous thromboses develop in half of heterozygotic individuals. Homozygous deficiency leads to fetal death in utero. Acquired deficiency occurs in patients with ICE, liver disease, nephrotic syndrome, with therapy with heparin or L-asparaginase.

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Forms

The mutation of the prothrombin 20210 gene leads to an increase in the plasma prothrombin level and an increased risk of venous thromboembolism.

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Diagnostics of the antithrombin deficiency

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

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Treatment of the antithrombin deficiency

Taking warfarin by mouth is used to prevent venous thromboembolism with an antithrombin deficiency.

More information of the treatment

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