congenital platelet function disorders
Last reviewed 01/2018
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
von Willebrand's disease (congenital deficiency of von Willebrand's factor )