Antithrombin deficiency
Antithrombin deficiency | |
ICD-9 | 289.81 |
---|---|
OMIM | 107300 |
DiseasesDB | 783 |
eMedicine | ped/119 |
MeSH | D020152 |
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.[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.
See also
References
- ↑ Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965;13:516–520. PMID 14347873.