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Glanzmann Thrombasthenia

  • Akbar Dorgalaleh
  • Man-Chiu Poon
  • Yavar Shiravand
Chapter

Abstract

Glanzmann thrombasthenia (GT) is a rare severe inherited platelet function disorder caused by the deficiency or dysfunction of integrin αIIbβ3 [glycoprotein (GP) IIb/IIIa]. The disorder manifests with mucocutaneous bleeding early in life. Although purpura, epistaxis, gum bleeding, and menorrhagia are the most common clinical presentations, life-threatening hemorrhage can occur with fatal consequences. GT has a distinct laboratory feature with absence of platelet aggregation response to all physiological agonists but with normal response to ristocetin. In flow cytometric analysis, αIIbβ3 (GPIIb/IIIa) (CD41/CD61) is absent or decreased, but in variant forms of GT, nonfunctional αIIbβ3 is expressed in nearly normal amounts. Different therapeutic choices are available for the management of patients with GT. Local measures or antifibrinolytic agents can be used for management of mild bleeds, whereas for those with more severe hemorrhage, systemic hemostatic agents including platelet concentrates and recombinant human activated factor VII (rFVIIa) are used. Currently, platelet transfusion is the standard treatment, but repeated transfusion can result in allo-immunization and refractoriness to further platelet transfusion. To minimize the risk of HLA-allo-immunization against platelets, preferably patients should receive HLA-matched leukocyte-reduced platelet concentrates, particularly from single donors. rFVII can be used for the management of patients with GT with antibodies against platelets and platelet refractoriness. Timely diagnosis and appropriate management of the disorder can significantly improve the quality of life of patients with GT.

Keywords

Glanzmann thrombasthenia Inherited platelet function disorder Recombinant human activated factor VII (rFVIIa) Platelets Bleeding 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Akbar Dorgalaleh
    • 1
  • Man-Chiu Poon
    • 2
    • 3
    • 4
    • 5
  • Yavar Shiravand
    • 1
  1. 1.Department of Hematology and Blood TransfusionSchool of Allied Medicine, Iran University of Medical SciencesTehranIran
  2. 2.Department of MedicineUniversity of Calgary Cumming School of MedicineCalgaryCanada
  3. 3.Department of PediatricsUniversity of Calgary Cumming School of MedicineCalgaryCanada
  4. 4.Department of OncologyUniversity of Calgary Cumming School of MedicineCalgaryCanada
  5. 5.Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program, Foothills Medical Centre, Alberta Health ServicesCalgaryCanada

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