ABSTRACT
The term thrombophilia includes any inherited and acquired disorders associated with
an increased tendency to venous thromboembolism (VTE). Inherited thrombophilia is
one of the main determinants of VTE, and the presence of inherited thrombophilic defects
exposed carriers to increased risks for VTE compared with noncarriers. There is no
clear relationship between clinical manifestations and the type of underlying thrombophilic
defect. Thus, the diagnosis of inherited thrombophilia has to be established on a
laboratory basis. Carriers of thrombophilic defects may experience thrombosis at a
younger age than noncarriers. However, a first thrombotic manifestation that occurs
late in life may also be an expression of thrombophilia and this remains in many cases
the only etiopathogenetic explanation for the event. Screening of family members of
symptomatic probands has the potential to identify still asymptomatic carriers who
may benefit from more appropriate thromboprophylaxis during high-risk situations for
VTE. Women of fertile age who belong to these thrombophilic families might receive
the greatest advantage from screening. Many inherited thrombophilic disorders can
be considered risk factors for recurrent VTE, especially if more than one defect is
present in the same patient. More intensive or prolonged duration of VTE treatment
might be requested for the prevention of recurrent VTE in the most severe thrombophilic
conditions. The availability of new methods for the assessment of thrombin generation
in terms of endogenous thrombin potential are very promising tools for the identification
of those carriers of inherited thrombophilia who will develop thrombosis or who will
encounter recurrence of VTE.
KEYWORDS
Inherited thrombophilia - genetic defects - acquired risk factors - recurrent venous
thromboembolism (VTE) - laboratory screening - prophylaxis of VTE
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Prof.
Paolo SimioniM.D. Ph.D.
Department of Medical and Surgical Sciences, 2nd Chair of Internal Medicine, University
of Padua Medical School
via Ospedale 105, 35100 Padua, Italy
Email: paolo.simioni@unipd.it
