Antithrombin III deficiency

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Antithrombin III deficiency
ICD-9 289.81
OMIM 107300
DiseasesDB 783
MeSH D020152

For patient information click here

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Antithrombin III deficiency is a rare hereditary disorder that generally comes to light when a patient suffers recurrent venous thrombosis and pulmonary embolism.

This was first described by Egeberg in 1965.[1]

The patients are treated with anticoagulants or, more rarely, with antithrombin concentrate.

In renal failure, especially nephrotic syndrome, antithrombin is lost in the urine, leading to a higher activity of Factor II and Factor X and in increased tendency to thrombosis.

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References

  1. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965;13:516–520. PMID 14347873.

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