title: Inherited defects of coagulation factor V: the hemorrhagic side.
abstract: Coagulation factor V (FV) is the protein cofactor required in vivo for the rapid generation of thrombin catalyzed by the prothrombinase complex. It also represents a central regulator in the early phases of blood clot formation, as it contributes to the anticoagulant pathway by participating in the downregulation of factor VIII activity. Conversion of precursor FV to either a procoagulant or anticoagulant cofactor depends on the local concentration of procoagulant and anticoagulant enzymes, so that FV may be regarded as a daring tight-rope walker gently balancing opposite forces. Given this dual role, genetic defects in the FV gene may result in opposite phenotypes (hemorrhagic or thrombotic). Besides a concise description on the structural, procoagulant and anticoagulant properties of FV, this review will focus on bleeding disorders associated with altered levels of this molecule. Particular attention will be paid to the mutational spectrum of type I FV deficiency, which is characterized by a remarkable genetic heterogeneity and by an uneven distribution of mutations throughout the FV gene.
authors.affiliation: Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Asselta
authors.forename: M L
authors.initials: ML
authors.lastname: Tenchini
authors.forename: S
authors.initials: S
authors.lastname: Duga
mesh_terms: D025861:Blood Coagulation Disorders, Inherited; D005165:Factor V / Q000235:genetics / Q000502:physiology; D005166:Factor V Deficiency / Q000150:complications* / Q000235:genetics; D006470:Hemorrhage / Q000209:etiology* / Q000235:genetics; D006801:Humans; D009154:Mutation
chemical_list: D005165:Factor V