Primary hypercoagulable states are quantitative and qualitative anomalies of coagulation-specific proteins. Many anomalies like these involve acquired mutations and polymorphisms leading to antithrombotic factor deficiency (thrombophilia by antithrombine deficit (III), -protein S-deficit and protein C deficit), or in- crease of prothrombinic factors (by gain-of-function mutation) such as thrombophilia factor V Leiden (re- sistant to activated protein C), mutation in prothrom- bine G20210A or polymorphisms of MTHFR in homo- cysteine metabolism. Each is a factor of individual risk to thrombosis. Hence, when multiple prothrombotic mutations interact, these primary hypercoagulable states associate to increase predisposition to throm- bosis for lifelong. Thromboembolic events in patients diagnosed with inherited or acquired thrombophilia are among the leading causes of mortality worldwide.
Keywords: thrombosis, protein C, protein S, anti- thrombin III, thrombophilia.
APC = activated protein C
VTE = venous thromboembolism
SNP = single nucleotide polymorphism
aVF = activated V factor
PVT = profound venous thrombosis AT (III) = antithrombine (III)
aXF = activated X factor PC = protein C
WISN = Warfarin induced skin necrosis FL (PF) = fetal loss
CID = disseminated intravascular coagulation PS = protein S
MTHFR = methylenetetrahydrofolate reductase