Antithrombin deficiency

Antithrombin deficiency
ICD-9	289.81
OMIM	107300
DiseasesDB	783
eMedicine	ped/119
MeSH	D020152

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

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.

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.

Differentiating antithrombin deficiency from other Diseases

Antithrombin deficiency must be differentiated from other diseases that cause symptoms of DVT and pulmonary embolism such as:

• Factor V Leiden mutation
• Protein C deficiency
• Protein S deficiency
• Prothrombin gene mutation
• Disseminated intravascular coagulation (DIC)
• Antiphospholipid antibody syndrome

For more information on differentiating antithrombin deficiency, click here.

See also

• Antithrombin

External links

• Patient's pages on antithrombin

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