Bernard-Soulier Syndrome

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

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

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