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Key Features

  • Rare autosomal recessive disorder

  • Due to reduced or abnormal platelet membrane expression of glycoprotein Ib/IX (von Willebrand [vWF] receptor)

Clinical Findings

  • Often severe mucosal and postoperative bleeding

Diagnosis

  • Presence of abnormally large platelets (approaching the size of red cells)

  • Moderate thrombocytopenia

  • Prolonged bleeding time

  • Platelet aggregation studies show a marked defect in response to ristocetin, whereas aggregation in response to other agonists is normal

  • Addition of normal platelets corrects the abnormal aggregation

  • Platelet flow cytometry confirms the diagnosis

Treatment

  • Platelet transfusion when necessary

  • Desmopressin acetate (DDAVP), antifibrinolytic agents, and recombinant human activated factor VII also have been used successfully

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