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Congenital Factor XIII Deficiency

  • Akbar Dorgalaleh
  • Majid Naderi
  • Majid Safa
Chapter

Abstract

Factor XIII (FXIII) is a transglutaminase that in addition to its well-known role in coagulation cascade has a crucial role in angiogenesis, wound healing, bone metabolism, and maintenance of pregnancy. Due to the role of FXIII in important processes in the body, patients with congenital FXIII deficiency have a high rate of life-threatening bleeds including umbilical cord bleeding (>80%), intracranial hemorrhage (ICH) (~30%), and recurrent pregnancy loss (~all untreated women). Due to the high rate of life-threatening bleeding, this disorder is accompanied with high rate of morbidity and mortality; with timely diagnosis and appropriate management of disorder, these diatheses can be significantly decreased or even be alleviated. For timely diagnosis of disorder, clinical presentations, family history, and appropriate laboratory approach should be considered. FXIII functional assay is recommended as the first-line screening test, but a significant number of countries only used clot solubility test. For the treatment of congenital FXIII deficiency, different products are available, but FXIII concentrate is the treatment of choice. For primary prophylaxis, 10–40 IU/kg FXIII concentrate is used, but for on-demand treatment, the kind of bleeding and, in case of surgery, type and duration of surgery should be considered. With these considerations, a debilitating disorder such as congenital FXIII deficiency can be properly managed.

Keywords

Congenital factor XIII deficiency Rare bleeding disorders Diagnosis Treatment 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Akbar Dorgalaleh
    • 1
  • Majid Naderi
    • 2
  • Majid Safa
    • 1
  1. 1.Department of Hematology and Blood TransfusionSchool of Allied Medicine, Iran University of Medical SciencesTehranIran
  2. 2.Department of Pediatrics Hematology and Oncology, Ali Ebn-e Abitaleb Hospital Research Centre for Children and Adolescents Health [RCCAH]Zahedan University of Medical SciencesZahedanIran

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