Antithrombin III deficiency
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| Antithrombin III deficiency | |
|---|---|
| Specialty | Hematology  |
Antithrombin III deficiency (abbreviated ATIII deficiency) is a deficiency of antithrombin III. It is a rare hereditary disorder that generally comes to light when a patient suffers recurrent venous thrombosis and pulmonary embolism, and repetitive intrauterine fetal death (IUFD).[1] Inheritance is usually autosomal dominant, though a few recessive cases have been noted.[2]
The disorder was first described by Egeberg in 1965.[3]
The patients are treated with anticoagulants or, more rarely, with antithrombin concentrate.
In kidney 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.
Heparin resistance
Heparin enhances ATIII activity and neutralizes "activated serine protease coagulation factors."[4] Patients with ATIII deficiency requiring anticoagulant therapy with heparin will need higher doses of heparin. ATIII binds to thrombin and then forms the thrombin-anti thrombin complex or TAT complex. This is a major natural pathway of anticoagulation. This binding of thrombin to AT is greatly enhanced in the presence of heparin. Heparin does not affect vitamin K epoxide, an enzyme required for the reduction of vitamin K, so giving vitamin K1 (Phytonadione) will not reverse the effects of heparin. [5]
Heparin is used in bridge therapy when initiating a patient on warfarin when in a hospital setting. It can be used in DVT prophylaxis and treatment, acute coronary syndromes, and ST-segment elevated MI.
See also
References
- ^ Editor: Robert J Kurman, Blaustein's Pathology of the Female Genital Tract, Fifth Edition, 2002, Ch. 23, Diseases of the Placenta, p. 1136-7.
- ^ Online Mendelian Inheritance in Man (OMIM): 107300
- ^ Egeberg O. (1965) "Inherited antithrombin deficiency causing thrombophilia". Thromb Diath Haemorrh. 13:516-520. PMID 14347873.
- ^ Edward F. Goljan (2011). Pathology. Mosby/Elsevier. p. 251. ISBN 9780323084383. Retrieved 24 August 2014.
- ^ Basic and Clinical Pharmacolgy, Lange, 12th ed
External links
- Information on antithrombin from UIUC
- Non-profit advocacy group for patients and families with antithrombin deficiency