Bernard-Soulier Disease

Overview

Snapshot

• A 3-week-old boy is brought to the pediatrician to undergo a circumcision. Despite the procedure being uncomplicated, the bleeding has not subsided after a few hours. Complete blood count is significant for a platelet count of 85,000/mm³. Peripheral blood smear is shown. Platelet aggregation studies show no response to ristocetin. This was not corrected with the addition of normal plasma. With the addition of ADP, normal aggregation was observed.

Introduction

• Autosomal recessive platelet disorder 
  • deficiency of GPIb receptor for vWF → impaired platelet adhesion 
• Epidemiology
  • very rare
• affects males and females equally

Presentation

• Symptoms
  • epixtasis
  • mucosal bleeding
  • easy bruising
• menorrhagia

Evaluation

• Complete blood cell count
  • thrombocytopenia
• Peripheral smear
  • giant platelets
• Bleeding time
  • usually prolonged
• PT and PTT
  • normal
• Platelet aggregation studies
  • ristocetin – no aggregation
    • no correction with the addition of normal plasma
      • it is corrected in von Willebrand disease 
  • adenosine diphosphate (ADP) – aggregation
  • epinephrine – aggregation
• collagen – aggregation

Differential

• Glanzmann thrombasthenia 
• Idiopathic thrombocytopenic purpura (ITP) 
• von Willebrand disease

Treatment

• Supportive
  • avoid anti-platelet medication
• Surgery of life-threatening bleed
• platelet transfusion

Prognosis, Prevention, and Complications

• Varying bleeding severity throughout life