Platelet disorders

Etiology

• Primary (acquired)
  • Defects of platelet adhesion
    • Bernard–Soulier syndrome: An autosomal recessive disorder caused by mutations in the GPIb gene. The platelets are larger than normal. There is defective binding to vWF and exposed subendothelial connective tissues leading to failed aggregation.
  • Defects of platelet aggregation
    • Thrombasthenia (Glanzmann’s disease): An autosomal recessive disorder in which GPIIb/IIIa receptors are defective, leading to failure of primary platelet aggregation.
  • Storage pool diseases (defects of platelet secretion)
    • Alpha granule deficiency: A

Etiology

Clinical presentation

Diagnosis

Treatment

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