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Updated: Dec 18 2021

Bernard-Soulier Disease

  • Overview
  • Snapshot
    • A 4-week-old boy is brought to the pediatrician to undergo a circumcision. The bleeding has not subsided even though the procedure was uncomplicated. Complete blood count is significant for a platelet count of 65,000/mm3. Peripheral blood smear giant platelets. 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 men and women equally
  • Presentation
    • Symptoms
      • epixtasis
      • mucosal bleeding
      • easy bruising
      • menorrhagia
  • STUDIES
    • 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
          • 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
    • Varying bleeding severity throughout life
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