Congenital Bleeding Disorders pp 201-218 | Cite as
Congenital Factor V Deficiency
Abstract
Coagulation factor (F) V has a central role in the coagulation cascade. Following conversion to its active form (FVa), it functions as an essential cofactor in the prothrombinase complex, which accelerates the conversion of prothrombin to thrombin. In addition, this coagulation factor has anticoagulant activity, which acts as a cofactor for activated protein C (APC) for downregulation of FVIII. Congenital FV deficiency, also termed parahemophilia, is a rare bleeding disorder (RBD) with an estimated prevalence of 1 per million in the general population. This disorder most often presents in regions with a high rate of consanguineous marriages. The most common clinical manifestations of this disorder are mucosal and postsurgical bleeds, although life-threatening bleeding episodes are rare. FV deficiency is suspected through prolonged routine coagulation laboratory tests including prothrombin time (PT) and activate thromboplastin time (aPTT). The diagnosis is confirmed by specific diagnostic tests including FV antigen and activity assays. The only available therapeutic choice for patients with FV deficiency is fresh frozen plasma (FFP): the recommended dose is dependent on the location and severity of bleeding.
Keywords
Congenital factor V deficiency Rare bleeding disorder Diagnosis ManagementReferences
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