Bernard-Soulier Syndrome

Rare autosomal recessive disorder

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

Often severe mucosal and postoperative bleeding

Bleeding due to defective platelets is classically mucocutaneous, but is not limited to mucocutaneous surfaces

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

Platelet transfusion when necessary

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