Publication:

Type-1 Glanzmann’s thrombasthenia: a rare cause of epistaxis in a child

Glanzmann’s thrombasthenia (GT) is a rare genetic platelet surface disorder of glycoprotein IIb/IIIa receptor presenting with muco-cutaneous bleeding of varying severity. We are reporting an unusual case of a child presenting with recurrent epistaxis with prolonged bleeding time, moderate thrombocytopenia and giant platelet size. GT was suspected because the platelet aggregation was abnormal with adenosine diphosphate, epinephrine, collagen, and thrombin; but normal with ristocetin. Diagnosis was confirmed by flow cytometry which showed deficiency of platelet membrane receptors CD 41 (Gp IIb) and CD 61 (GpIIIa) with normal expression of CD 42b (GpIb). Platelets transfusions and antifibrinolytics were given to manage bleeding. Due to repeat platelets transfusions patients with GT can develop anti-platelet antibodies for which rFVIIa (recombinant activated factor VII) is effective. Definitive treatment includes stem cell transplant or gene therapy.