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Thromb Haemost 2016; 115(01): 25-30
DOI: 10.1160/TH15-06-0478
Review Article
Schattauer GmbH Schattauer

Uncertain thrombophilia markers

Massimo Franchini
1   Department of Transfusion Medicine and Hematology, Carlo Poma Hospital, Mantova, Italy
,
Ida Martinelli
2   Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy
,
Pier Mannuccio Mannucci
3   Scientific Direction, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
› Author Affiliations
Further Information

Publication History

Received: 12 June 2015

Accepted after major revision: 03 July 2015

Publication Date:
22 November 2017 (online)

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Summary

The development of venous thromboembolism (VTE), which includes deep-vein thrombosis and pulmonary embolism, may be associated with inherited or acquired risk factors that can be measured in plasma or DNA testing. The main inherited thrombophilias include the plasma deficiencies of the natural anticoagulants antithrombin, protein C and S; the gain-of-function mutations factor V Leiden and prothrombin G20210A; some dysfibrinogenaemias and high plasma levels of coagulation factor VIII. Besides these established biomarkers, which usually represent the first-level laboratory tests for thrombophilia screening, a number of additional abnormalities have been less consistently associated with an increased VTE risk. These uncertain causes of thrombophilias will be discussed in this narrative review, focusing on their clinical impact and the underlying pathogenetic mechanisms. Currently, there is insufficient ground to recommend their inclusion within the framework of conventional thrombophilia testing.

Keywords

Thrombophilia - venous thromboembolism - thrombophilia markers
 

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