Coagulation factor V and thrombophilia: Background and mechanisms
Kenneth Segers1, Björn Dahlbäck2, Gerry A. F. Nicolaes1
1Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands; 2Department of Laboratory Medicine, Clinical Chemistry, Lund University, Wallenberg Laboratory, University Hospital, Malmö, Sweden
thrombosis, thrombophilia, coagulation, FactorV, protein C pathway
Human coagulation factorV (FV) is an essential coagulation protein with functions in both the pro- and anticoagulant pathways. Failure to express and control FV functions can either lead to bleeding, or to thromboembolic disease. Both events may develop into a life-threatening condition. Since the first description of APC resistance,and in particular the description of the so-called factorVLeiden mutation, in which a prominent activated protein C cleavage site in FV has been abolished through a mutation in the FV gene,FV has been in the center of attention of thrombosis research. In this review we describe how the functions of FV are expressed and regulated and provide an extensive description of the role that FV plays in the etiology of thromboembolic disease.