congenital platelet function disorders

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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

Last reviewed 01/2018

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