BERNARD-SOULIER SYNDROME

• Pathological Basis:
  • Mode of inheritance: autosomal recessive.
  • Patients with this disorder present with a prolonged bleeding time and a decreased platelet count. Peripheral blood smears from such patients show large platelets.
  • Platelet abnormalities are presumably due to:
    • Thrombocytopenia due to shortened life span of platelets in the circulation.
    • Decreased thrombin binding.
    • Decreased adhesion to subendothelium.
    • Failure to bind and activate factor XI.
    • Decreased binding of von Willebrand factor.
• Treatment:
  • Judicious use of platelet concentrates (platelet antibodies may develop).
  • Avoidance of aspirin-containing compounds.