haematology - myeloproliferative disorders

Question 1

define myeloproliferative disorders

Answer 1

clonal proliferation of ≥1 haemopoeitic component

Question 2

philadelphia chromosome positive disorders

Answer 2

CML

Question 3

philadelphia chromosome negative disorders

Answer 3

polycythaemia vera
myelofibrosis
essential thrombocytosis

Question 4

Ph Chr negative is associated with

Answer 4

JAK2 mutations
especially in polycythaemia vera

Question 5

people with myeloproliferative disorders are at risk of

Answer 5

transformation to myelofibrosis and acute leukaemias

Question 6

polycythaemia

Answer 6

raised RBC mass, count, PCV, Hb

Question 7

causes of polycythaemia

Answer 7

polycythaemia vera
familial polycythaemia

Question 8

secondary causes of polycythaemia

Answer 8

disease states (renal cancer)
high altitude
chronic hypoxia (COPD)

Question 9

relative (pseudo) polycythaemia

Answer 9

normal RBC mass, reduced plasma volume

Question 10

causes of relative (pseudo) polycythaemia

Answer 10

dehydration
burns
vomiting
diarrhoea
cigarette smoking

Question 11

polycythaemia rubra vera

Answer 11

MPD where erythroid precursors dominate BM

point mutation JAK2 V617F
independent of normal mechanisms of regulation

incident rises with age

Question 12

clinical features of polycythaemia rubra vera

Answer 12

hyperviscosity
hypervolaemia
hyper metabolism

blurred vision
headache

plethoric (red nose)
gout
thrombosis
stroke
retinal vein engorgement
erythromelagia

splenomegaly

due to histamine release:
aquagenic pruritus
peptic ulcers

Question 13

investigations for polycythaemia rubra vera

Answer 13

FBC: raised HV, HCT, platelets, WCC
low serum EPO

Question 14

treatment for polycythaemia rubric vera

Answer 14

venesection
hydroxycarbamide (maintenance)
aspirin