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Related Experiment Videos

Antithrombin deficiency: issues in laboratory diagnosis.

Kandice Kottke-Marchant1, Alexander Duncan

  • 1Department of Clinical Pathology, Cleveland Clinic Foundation, Ohio 44195, USA. marchak@ccf.org

Archives of Pathology & Laboratory Medicine
|November 8, 2002
PubMed
Summary

Antithrombin deficiency is a rare genetic cause of thrombophilia. Diagnostic testing, including functional assays, is recommended after excluding acquired causes, with family studies aiding diagnosis.

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Area of Science:

  • Hematology
  • Genetics
  • Clinical Pathology

Background:

  • Antithrombin deficiency is an infrequent genetic abnormality.
  • It can be a significant contributing factor to thrombophilia.
  • It may coexist with other genetic or acquired risk factors.

Purpose of the Study:

  • To review the pathophysiology of antithrombin deficiency and its role in congenital thrombophilia.
  • To provide recommendations for diagnostic testing of antithrombin function and concentration.
  • To specify when, how, and whom to test for antithrombin deficiency.

Main Methods:

  • Review of the published medical literature.
  • Consensus opinions from recognized experts in the field.
  • Recommendations presented and voted upon at the College of American Pathologists Conference XXXVI.

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Main Results:

  • Antithrombin deficiency is a rare genetic cause of thrombophilia.
  • Assay of antithrombin plasma levels is appropriate in laboratory evaluation for thrombophilia.
  • Functional amidolytic antithrombin assays are preferred.

Conclusions:

  • Diagnosis requires exclusion of acquired causes like liver disease, consumptive coagulopathy, or heparin therapy.
  • Low antithrombin levels should be confirmed with a repeat assay.
  • Family studies and antigenic assays can aid in diagnosis and subclassification.