Bernard-Soulier syndrome

Autosomal recessive quantitative or qualitative defect of the platelet GPIb-IX-V receptor that binds vWF. Impaired platelet-to-vWF adhesion causes mucocutaneous bleeding. Smear shows giant platelets with mild-to-moderate thrombocytopenia.

• Classic congenital adhesion defect. Distinguishing it from von Willebrand disease and Glanzmann thrombasthenia is a common exam task.

• Epistaxis, easy bruising, gingival bleeding since childhood.
• Peripheral smear: macrothrombocytes (giant platelets).
• Labs: platelet count low or low-normal; bleeding time prolonged; PT and PTT normal.

1. Ristocetin aggregation is absent and does not correct with normal plasma (receptor missing).
2. Desmopressin is not helpful; consider platelet transfusion for major bleeds or procedures.
3. Avoid aspirin and NSAIDs; use antifibrinolytics for dental or ENT bleeding.

1. Local measures and antifibrinolytics for minor bleeds.
2. Platelet transfusion for severe bleeding or surgery.
3. Counsel to avoid platelet-inhibiting drugs.

• B for Big platelets and Bad binding to vWF.
• Adhesion problem (GPIb) vs aggregation problem (GPIIb/IIIa in Glanzmann).

• Uncontrolled mucosal hemorrhage or menorrhagia needs urgent hemostatic support.
• Repeated transfusions carry alloimmunization risk; coordinate with hematology.

1. Mucocutaneous bleeding with large platelets -> order platelet function testing.
2. Absent ristocetin response that does not correct -> Bernard-Soulier likely.
3. Prepare peri-procedural plan (antifibrinolytic +/- platelets).

• Teen with lifelong nosebleeds, giant platelets, abnormal ristocetin that does not correct with mixing: Bernard-Soulier.
• Dental extraction planning in congenital adhesion disorder: give platelets or antifibrinolytics; avoid aspirin.