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Antithrombin III deficiency
Classification and external resources
ICD-10 D68.80
ICD-9 289.81
OMIM 107300
DiseasesDB 783
eMedicine ped/119
MeSH D020152

Antithrombin III deficiency is a rare hereditary disorder that generally comes to light when a patient suffers recurrent venous thrombosis and pulmonary embolism. Inheritance is usually autosomal dominant, though a few recessive cases have been noted.[1]

The disorder was first described by Egeberg in 1965.[2]

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.


Heparin resistance

Pts with AT3 deficiency need higher doses of heparin. AT3 is known to slowly break up fibrin and factor X. When heparin binds to AT3, AT3 will break up fibrin and factor X faster. AT3 is not dependent on vitamin K so unlike warfarin, giving vitamin K will not reverse the effects of heparin.

But, vitamin K does affect the metabolic reaction of warfarin. So while an undiagnosed patient would not be affected by fluctuating levels of vitamin K, a patient taking warfarin must be aware of their intake of vitamin K, as it can adversely affect their INR. And seeing as most patients with an antithrombin deficiency take warfarin as both a therapeutic medicine and to prevent recurring thrombosis, not heparin, vitamin K does play a role in the day-to-day life of someone with an antithrombin deficiency. Heparin is only used to dissolve a dangerous DVT, not as a therapeutic medicine.

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-segement elevated MI.

See also


  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 107300
  2. ^ Egeberg O. (1965) "Inherited antithrombin deficiency causing thrombophilia". Thromb Diath Haemorrh. 13:516-520. PMID 14347873.

External links



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