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Congenital Factor V Deficiency

  • Shadi Tabibian
  • Akbar Dorgalaleh
  • Rodney M. Camire
Chapter
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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 Management 
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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Shadi Tabibian
    • 1
  • Akbar Dorgalaleh
    • 1
  • Rodney M. Camire
    • 2
  1. 1.Department of Hematology and Blood TransfusionSchool of Allied Medicine, Iran University of Medical SciencesTehranIran
  2. 2.Division of Hematology, Department of PediatricsChildren’s Hospital of Philadelphia, University of Pennsylvania, Perelman School of MedicinePhiladelphiaUSA

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