Chapter 6 Factor V Leiden and activated protein C resistance
作者： Olivier Segers , Elisabetta Castoldi
DOI: 10.1016/S0065-2423(09)49006-1
关键词: Anticoagulant 、 Cancer research 、 Apc resistance 、 Coagulation cascade 、 Mutation 、 Venous thrombosis 、 Factor V Leiden 、 Activated protein C resistance 、 Medicine 、 Protein C
摘要: Activated protein C (APC) proteolytically inactivates factors Va (FVa) and VIIIa (FVIIIa), which in turn control two key steps of the coagulation cascade. The pathophysiological importance this anticoagulant mechanism is illustrated by severe prothrombotic diathesis associated with congenital deficiencies its cofactor S. A poor response plasma to APC (APC resistance) was first described a thrombotic patient 1993 soon recognized as most common risk factor for venous thrombosis. underlying genetic defect identified one year later FV Arg506Gln mutation (FV Leiden), abolishes APC-cleavage sites on FVa. These ground-breaking discoveries have stimulated numerous researches into workings pathway, molecular mechanisms resistance carriers noncarriers Leiden, clinical significance resistance. This chapter reviews important findings, summarizes state art, discusses new developments rapidly evolving research area.
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