Uncertain thrombophilia markers.

Abstract:

: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.

journal_name

Thromb Haemost

authors

Franchini M,Martinelli I,Mannucci PM

doi

10.1160/TH15-06-0478

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

25-30

issue

1

eissn

0340-6245

issn

2567-689X

pii

15-06-0478

journal_volume

115

pub_type

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