What is the role of antithrombin deficiency studies in the evaluation of hereditary and acquired hypercoagulability?

Updated: Jan 05, 2018
  • Author: Paul Schick, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

Available studies for antithrombin deficiency include both functional and antigenic assays. Functional studies should always be performed, because some cases of antithrombin deficiency may be associated with normal antigen levels. The functional study is a chromogenic heparin cofactor assay, which measures the ability of antithrombin to bind heparin and neutralize thrombin or factor Xa. Antithrombin deficiency can be acquired or represent either of two major hereditary types, and further immunologic assessment or DNA sequencing can be done to characterize the specific defect present.

For full discussion, see Antithrombin Deficiency.

Prothrombin (factor II) deficiency can be acquired (eg, due to severe liver disease, vitamin K deficiency, or development of an anti-prothrombin antibody) or hereditary. PCR testing can identify the prothrombin G20210A mutation. For more information, see Factor II.


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