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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

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Diagnostic algorithm for thrombophilia screening

Sandra Margetic
  • Department of Laboratory Coagulation, University Department of Chemistry, Medical School University Hospital Sestre Milosrdnice, Zagreb, Croatia
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Published Online: 2010-11-06 | DOI: https://doi.org/10.1515/CCLM.2010.362


Thrombophilia screening is aimed at detecting the most frequent and well-defined causes of venous thrombosis, such as activated protein C resistance/factor V Leiden mutation, prothrombin G20210A gene mutation, deficiencies of natural anticoagulants, such as antithrombin, protein C and protein S, the presence of antiphospholipid antibodies, hyperhomocysteinemia and increased factor VIII activity. At this time, thrombophilia screening is not recommended for those possible congenital or acquired risk factors, whose association with increased risk of thrombosis has not been proven sufficiently. Laboratory investigations should include a step-wise approach to the diagnosis of thrombotic disorders with respect to the assays and methods of analysis that are used. The assays recommended for the first diagnostic step of screening should establish, whether the subject has one of the common causes of thrombophilia. If one or more abnormal results are obtained, the second diagnostic step includes the assays recommended for confirmation and/or characterization of the defect. When performing the investigation of thrombophilia, it is important to consider all pre-analytical and other variables that may affect the results of thrombophilia testing, including time of testing, age, gender, liver function, hormonal status, pregnancy or the acute phase response to inflammatory diseases. This is necessary, in order to avoid, any misinterpretation of the results. This review summarizes the current knowledge concerning thrombophilia investigations, with special focus on the diagnostic algorithm regarding patient selection, the assays and methods of analysis used and all the variables that should be considered when employing tests for the diagnosis of thrombophilia.

Clin Chem Lab Med 2010;48:S27–39.

Keywords: diagnostic algorithm; laboratory investigation; risk factors; thrombophilia; venous thromboembolism

About the article

Corresponding author: Sandra Margetic, M.Sc., Department of Laboratory Coagulation, University Department of Chemistry, Medical School University Hospital Sestre Milosrdnice, Vinogradska 29, 10000 Zagreb, Croatia Phone: +385 1 3787 115, Fax: +385 1 3768 280

Received: 2010-06-08

Accepted: 2010-09-05

Published Online: 2010-11-06

Published in Print: 2010-12-01

Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2010.362.

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©2010 by Walter de Gruyter Berlin New York. Copyright Clearance Center

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