Bernard-Soulier syndrome is a rare autosomal recessive disorder characterised by the absence of platelet glycoprotein Ib, a receptor for von Willebrand factor.
Platelet adhesion to blood vessels is impaired. Bleeding is often severe and may be mucosal or occur post-operatively. Often, there is thrombocytopaenia (30-80 x10^9/litre) and the platelets are abnormally large. Bleeding time is severely prolonged.
Aggregation occurs in the presence of typical agonists such as ADP, collagen and thrombin, but not in response to ristocetin. Serum von Willebrand factor is present as normal.
Treatment is by platelet transfusion as necessary.
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