Hereditary Haematological Disorders Flashcards
1
Q
What is essential thrombocytosis?
A
Myeloproliferative disorder caused by dysregulated MKC (megakaryocyte platelet precursor) proliferation.
2
Q
How does essential thrombocytosis present?
A
- females 50-70
Incidental bloods: - platelet count >450
- thrombosis
- bleeds (GI/IC)
- headache
- dizziness/syncope (hyperviscosity)
- splenomegalia
- erythromelalgia
- livedo reticularis
3
Q
What is erythromelalgia ?
A
A red/blue discoloration of the extremities accompanied by burning pain.
Sign indicative of essential thrombocytosis
4
Q
What is livedo reticularis?
A
Net-like purple rash indicative of essential thrombocytosis
5
Q
Which mutation is present in 50-60% of essential thrombocytosis patients? Why is it important?
A
JAK2 V617F
(distinguishes between essential and reactive thrombocytosis)
6
Q
What is reactive thrombocytosis?
A
Transient thrombocytosis precipitated by infection/trauma (not hereditary, unlikely to present with thrombosis and bleeding)
