302. 5 Haematology (The case of the woman with weight loss and large abdomen)

Question 1

What is primary myelofibrosis?

Answer 1

When there is scarring on the bone marrow

Question 2

What is polycythaemia vera (PV)?

Answer 2

too many red blood cells are made in the bone marrow and, in many cases, the numbers of white blood cells and platelets are also elevated

Question 3

Name some myeloproliferative disorders

Answer 3

Essential thrombocythemia
Myelofibrosis
Chronic myeloid leukaemia
Erythroleukemia

Question 4

What is Essential thrombocythemia?

Answer 4

Causes a high number of platelets to form

Question 5

What is Erythroleukemia?

Answer 5

A subtype of acute myeloid leukaemia (AML) that is distinguished by erythroblastic proliferation

Question 6

Which diseases is a mutant JAK2 gene present in?

Answer 6

Polycythaemia vera(98%)
Erythroleukaemia (50%)
Myelofibrosis (50%)

Question 7

How is essential thrombocythemia diagnosed?

Answer 7

Confirm diagnosis by JAK2 mutation analysis

If -ve, rule out reactive thrombocytosis
Raised inflammatory markers?
Malignancy, infection, bleeding etc?
Bone marrow biopsy – increased megakaryocytes?

If age < 60 and plts < 1500 and no hx of VTE then Aspirin only

If > 60 or plts > 1500 or previous VTE or other significant risk factor, then add Hydoxycarbamide to maintain platelets in normal range

Question 8

What are the clinical symptoms of myelofibrosis?

Answer 8

Fatigue
Itchiness
Bone pain
Fever
Weight loss
Night sweats

Question 9

How does Hydroxycarbamide treatment work?

Answer 9

It shrinks the spleen and controls platelets and white cells