essential thrombcytopenia

Question 1

definition

Answer 1

Myeloproliferative disorder characterised by an increased platelet count and risk of clotting
JAK2 V617F - 50-60% of cases

Question 2

diagnosis criteria and what is required for a diagnosis

Answer 2

Diagnosis criteria:
A1 - sustained platelet count >450 X 10^9/1
A2 - presence of an acquired pathogenic mutation
A3 - no other myeloid malignancy
A4 - no reactive cause for thrombocytosis and normal iron stores
A5 - bone marrow aspirate and trephine biopsy showing increased megakaryocyte numbers displaying a spectrum of morphology with predominant large megakaryocytes with hyperlobulated nuclei and abundant cytoplasm - reticulin generally not increased

For diagnosis:
* A1-A3
* A1 + A3-A5

Question 3

treatment

Answer 3

Treatment:
* aspirin 75mg daily
* Hydroxycarbamide 500mg daily
* Aim to keep platelet 150-400
* Treat CDV risk factors

Question 4

what should the platelet count be kept at?

Answer 4

150-400

Question 5

90% of patients have abnormality of what recptors

Answer 5

JAK / CALR / MPL