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