Factor V Leiden with deep venous thrombosis.
Factor V Leiden (FVL) is an autosomal co-dominantly inherited Arg506-->Gly substitution of the activated protein C cleavage site affecting 5% of the Caucasian population. FVL results in impaired anticoagulant function without procoagulant modification. Heterozygotes experience a seven-fold increase in thrombotic events, whereas homozygotes may incur a 50 to 100 fold increase. Even though patients are at increased risk for deep venous thrombi, they experience a smaller risk of pulmonary embolism compared to individuals affected by other coagulopathies.
Gardner
Jeff
J
Wake Forest University School of Medicine, Winston-Salem, NC, USA. jgardner@wfubmc.edu
D020016:Activated Protein C Resistance / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005165:Factor V / Q000235:genetics*; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis; D006801:Humans; D016682:Lupus Coagulation Inhibitor / Q000097:blood; D008875:Middle Aged; D017354:Point Mutation; D020246:Venous Thrombosis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*
D016682:Lupus Coagulation Inhibitor; C095381:factor V Leiden; D005165:Factor V