Platelet transfusion refractoriness in Glanzmann thrombasthenia: a case report with literature review.

Abstract

Introduction: Glanzmann thrombasthenia (GT) is a rare inherited platelet function disorder characterized by a deficiency or dysfunction of the αIIbβ3 integrin, leading to impaired platelet aggregation. Platelet transfusion refractoriness (PTR) represents a therapeutic challenge, often resulting from alloimmunization against HLA antigens or the αIIbβ3 complex.

Methods: We report the case of a patient with type I GT, who presented with recurrent mucosal hemorrhages and chronic anemia requiring repeated transfusions.

Results: By the age of 8 years, the patient developed transfusion refractoriness, with hemorrhagic episodes unresponsive to platelet transfusions. Immunologic investigations revealed anti-HLA and anti-αIIbβ3 antibodies. At 14 years of age, a severe hemorrhagic episode with rapid hemoglobin decline was successfully managed with recombinant activated factor VII (rFVIIa).

Discussion: Management of PTR in GT represents a major clinical challenge, frequently associated with anti-HLA or anti-αIIbβ3 antibodies. In high-resource settings, transfusion strategies are guided by antibody specificity: HLA-compatible or human platelet antigen-compatible platelets are used for patients with anti-HLA or anti-human platelet antigen antibodies, respectively, while rFVIIa is reserved for individuals with anti-αIIbβ3 antibodies. In LMIC such as Tunisia, prevention of alloimmunization through systematic leukoreduction is essential. When PTR occurs, donor selection by crossmatching, when feasible, and judicious use of rFVIIa for life-threatening hemorrhage remain key therapeutic options.