The possibilities include: - ITP - but the bleeding seems excessive given the platelet count of 72. In addition she has a family history.
- Bernard-Soulier syndrome
- Hereditary macrothrombocytopenias (MYH 9 mutations - e.g. May-Hegglin) - but no Dohle like bodies seen on the blood film
- Grey platelet syndrome
The platelet aggregometry shows:
Collagen - normal ADP - normal Arachidonic acid - normal Ristocetin - reduced
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