Congenital platelet function disorders

Congenital causes of platelet disorders include:

• membrane abnormalities:
  • Bernard-Soulier syndrome
  • Glanzman's thrombasthenia
    
    
• storage pool abnormalities:
  • Hermansky-Pudlak syndrome
  • Chediak-Higashi syndrome
  • occasionally in Wiskott-Aldrich syndrome
    
    
• enzyme deficiencies:
  • cyclo-oxygenase deficiency
  • thromboxane sythetase deficiency
    
    
• deficiency for a plasma protein essential for platelet function:
  • von Willebrand's disease
    
    
• giant platelets:
  • Bernard-Soulier syndrome
  • Alport's syndrome variants
  • May-Hegglin