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Thrombophilia: How To Test? How To Manage?

By Julie Hambleton, MD

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Table 2Primary Causes of Venous Thromboembolic Disease
Deficiencies of the Natural Inhibitors
AT deficiency
PC deficiency
   Heterozygous autosomal dominant
   Homozygous autosomal recessive
PS deficiency
Qualitative Abnormalities of Hemostatic Regulatory Proteins
Factor V Leiden mutation
Prothrombin 20210
Qualitative Abnormalities of Fibrinogen
Dysfibrinogenemia
Defects in the Fibrinolytic System With Impaired Clot Lysis
Rare; poorly characterized
Other (Unknown Mechanism)
Persistently elevated factor VIII

 


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