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Clinical Chemistry and Laboratory Medicine (CCLM)

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

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

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Thrombophilia screening – at the right time, for the right patient, with a good reason

1Department of Vascular Diseases, University Medical Centre, Ljubljana, Slovenia

Corresponding author: Prof. Mojca Stegnar, PhD, Department of Vascular Diseases, University Medical Centre Ljubljana, 1525 Ljubljana, Slovenia Phone: +386 1 522 8032, Fax: +386 1 522 8070

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 48, Pages S105–S113, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2010.367, November 2010

Publication History

Published Online:


Thrombophilia can be identified in about half of all patients presenting with venous thromboembolism (VTE). Thrombophilia screening for various indications has increased tremendously, but whether the results of such tests help in the clinical management of patients is uncertain. Here, current recommendations for thrombophilia screening in selected groups of patients, and considerations whether other high-risk subjects should be tested are reviewed. The methods for determination of the most common thrombophilic defects (antithrombin, protein C, protein S deficiencies, Factor V Leiden and prothrombin G20210A) associated with strong to moderate risk of VTE are described, indicating the timing and location of thrombophilia screening. Circumstances when a positive result of thrombophilia screening helps clinicians decide if adjustments of the anticoagulant regime are needed are discussed. Finally, psychological, social and ethical dilemmas associated with thrombophilia screening are indicated.

Clin Chem Lab Med 2010;48:S105–13.

Keywords: pregnancy complications; screening; thromboembolism; thrombophilia

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