An Overview of Bernard–Soulier Syndrome – ICHCC
Iranian Comprehensive Hemophilia Care Center (ICHCC) shared a post on LinkedIn:
“Bernard–Soulier Syndrome (BSS)
When platelets are present, but don’t function properly!
Bernard–Soulier Syndrome (BSS) is a rare inherited platelet disorder caused by a defect in the GPIb-IX-V receptor complex on the platelet surface.
What is the role of this receptor?
The GPIb receptor binds to von Willebrand factor (vWF) and mediates the initial adhesion of platelets to injured blood vessels.
In BSS, this critical first step of primary hemostasis is impaired, resulting in a bleeding tendency.
Clinical Features:
- Easy bruising
- Recurrent epistaxis
- Gingival bleeding
- Menorrhagia in adolescent girls and women
- Prolonged bleeding after surgery or dental procedures
Typical Laboratory Findings:
- Mild to moderate thrombocytopenia
- Giant platelets on peripheral blood smear
- Prolonged bleeding time (or abnormal platelet function testing)
- Normal PT and aPTT
Key Examination Point:
On platelet aggregation studies: Reduced or absent response to ristocetin.
However: The abnormality is not corrected by adding normal plasma, helping differentiate BSS from von Willebrand disease.
Genetics: Most cases are inherited in an autosomal recessive pattern and are more common in populations with consanguineous marriages.
Management:
- Bleeding prevention and patient education
- Avoidance of aspirin and NSAIDs
- Tranexamic acid for mucosal bleeding
- Platelet transfusion for major bleeding episodes or surgical procedures
Clinical Pearl:
A patient with mucocutaneous bleeding, giant platelets, thrombocytopenia, and an abnormal ristocetin response should raise strong suspicion for Bernard–Soulier Syndrome.
Take-Home Message:
Bernard–Soulier Syndrome – Big Platelets plus Bleeding plus Defective Ristocetin Response.”
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