Understanding the pathophysiology helps explain the mild but definite clinical effects of the mutation. The second section reviews how the factor V Leiden mutation affects the risk of venous thrombosis with and without other known risk factors such as protein C deficiency, protein S deficiency, ...
Factor V Leiden mutation in Sneddon syndrome. Sneddon syndrome (SNS) is characterized by the association of ischaemic cerebrovascular events and widespread livedo racemosa. Its pathophysiology is still... R Besnier,C Francès,A Ankri,... - 《Lupus》 被引量: 18发表: 2003年 Infarction of the rig...
Factor V Leiden results from a mutation in the factor V gene G1691A that causes a missense mutation, changing the arginine to glutamine at the site (Arg506Gln).[5]Factor V Leiden is associated with thromboembolic disease and increased aPC resistance.[7]This mutation slows the aPC modification...
Factor V Leiden mutation: a treatable etiology for sporadic and recurrent pregnancy loss We hypothesized that the thrombophilic G1691A factor V Leiden (FVL) gene mutation was a common, significant, and treatable cause of sporadic and recurrent ... CJ Glueck,S Gogenini,J Munjal,... - 《Ferti...
- 《Pathophysiology of Haemostasis & Thrombosis》 被引量: 69发表: 1997年 Increased resistance to activated protein C and factor V Leiden in recurrent abortions. Review of other hypercoagulability factors Objective To evaluate hereditary and acquired hemostatic abnormalities associated with recurrent ...
Factor V Leiden mutation was present in 2 patients (5.1%) and 3 healthy subjects (2.2%), RR=2.4 (CI 95% 0.39 to 14.9, p=0.35). CVT was more common among women (67%) but mutation prevalence (Leiden or prothrombin) was higher among men (31%) than among women (19%), although not...
What is the role of cell surface–directed hemostasis in the pathophysiology of factor IX (FIX) deficiency (hemophilia B)?What is the prevalence of factor IX deficiency (FIX) (hemophilia B) in the US?What is the global prevalence of factor IX deficiency (FIX) (hemophilia B)?What is the ...
Factor V deficiency differs from the more common factor V Leiden mutation, resulting in resistance to APC and the inability to block factor V's anticoagulant effects. Individuals with factor V Leiden mutations are thus at increased risk of venous thromboembolic events. ...
22 Moreover, the F8 duplication may synergize with other risk factors for VTE, as in family B, where the penetrance of the F8 duplication was likely increased by coinheritance of the FV Leiden mutation. Notably, in both families, 5 of 7 carriers of the duplication developed (recurrent) VTE...
Two children had prothrombotic risk factors (an increase in lipoprotein (a) and a factor V Leiden mutation). The follow up period was between three months and 13 years (mean 3.9 years). Outcome was classified according to the Glasgow outcome scale as moderate disability (n = 4), severe ...