Myeloproliferative disease

Question 1

4 Myeloproliferative disorders

Answer 1

CML - Ph positive
Polycythaemia vera
Essential thrombocythaemia
Primary myelofibrosis

Question 2

Ix Polycythaemia

Answer 2

Dilution studies (relative reduced plasma volume / true raised RBC mass)
EPO levels (raised secondary, normal primary)

Question 3

Elderly woman
JAK2 mutation
Itching after hot bath
Visual disturbance, headache

Answer 3

PCV

Question 4

Mx PCV

Answer 4

Hydroxycarbamide and venesection (young + fit) - cytoreductive
Aspirin to reduce stroke risk

Question 5

JAK2 / calreticulin / MPL
Platelets >600
Incidental FBC finding
Increased thrombosis + bleeding

Answer 5

Essential thrombocythaemia

Question 6

Mx essential thrombocythaemia

Answer 6

Hydroxycarbamide - cytoreductive on all cells
Anagrelide - specific anti-platelet
Aspirin - keep platelets <400

Question 7

Risk of essential thrombocythaemia

Answer 7

5% develop AML >10y

Question 8

Massive splenomegaly
Circulating megakaryocytes
Teardrop dacrocyte RBCs
Dry tap on BM biopsy
Eventual BM failure (pancytopenia)

Answer 8

Primary myelofibrosis

Question 9

Mx myelofibrosis

Answer 9

Ruxolotinib - JAK2 inhibitor
Allogenic SCT
Splenectomy if causing pain
(RBC + platelet transfusions usually ineffective as splenomegaly = sequestration)

Question 10

Philadelphia chromosome t(9;22)
Massive leukocytosis >200
BCR-ABL
Chronic, accelerated + blast crisis phases
Tx - imatinib

Answer 10

CML

Question 11

Alcoholic

Diuretics

Answer 11

Pseudopolycythaemia