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Congenital Factor X Deficiency

  • Fateme Roshanzamir
  • Akbar Dorgalaleh
Chapter

Abstract

Congenital factor X (FX) deficiency with an estimated incidence of 1:1,000,000 is one of the rarest and most severe bleeding disorders that is inherited in autosomal recessive manner. Acquired form of FX deficiency is also rare and usually occurs in relation with AL amyloidosis. The most frequent bleeding diathesis in FX deficiency is mucosal bleedings such as epistaxis, gum bleeding, easy bruising, and menorrhagia. Spontaneous major bleedings such as hemarthrosis, hematoma, gastrointestinal (GI) and central nervous system (CNS) bleeding usually occur in the severely affected individuals. The patients with less severe FX deficiency may bleed after hemostatic challenges including surgery or trauma. FX deficiency is suspected following abnormal bleeding history with prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT) that will correct with a 1:1 mix with normal plasma. Then diagnosis should be confirmed by specific tests including antigenic (FX:Ag) and functional (FX:C) assays. Treatment of FX deficiency is based on replacement therapy by fresh frozen plasma (FFP) and prothrombin complex concentrate (PCC). A single-factor FX concentrate produced from human plasma (pdFX) recently was approved by FDA.

Keywords

Factor X deficiency Bleeding disorder Diagnosis Mutation Treatment 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Fateme Roshanzamir
    • 1
  • Akbar Dorgalaleh
    • 2
  1. 1.Blood Transfusion Research CenterHigh Institute for Research and Education in Transfusion MedicineTehranIran
  2. 2.Department of Hematology and Blood transfusion, School of Allied MedicineIran University of Medical SciencesTehranIran

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