myeloproliferative disorders

Question 1

what are myeloproliferative disorders

Answer 1

clonal proliferation of bone marrow stem cells excess production >1 haemopoietic lineage

Question 2

what mutation is present in nearly all cases of PRV, 50% ET or primary myelofibrosis

Answer 2

mutation in JAK2

Question 3

what is polycythaemia

Answer 3

increase in Hb above normal

Question 4

what is true polycythaemia

Answer 4

red cell mass increased.

Question 5

what is pseudo/relative polycythaemia

Answer 5

elevated Hb concentration due to reduction in plasma volume

Question 6

causes true polycythaemia primary

Answer 6

primary- PRV. congenital- Hb variant with increased O2 affinity.

Question 7

causes true polycythaemia secondary

Answer 7

high altitude, cyanotic congenital heart disease, chronic lung disease, renal disease,

Question 8

causes relative polycythaemia

Answer 8

stress polycythaemia, dehydration, diuretics

Question 9

what is thrombocytosis

Answer 9

elevation platelets

Question 10

primary causes thrombocytosis

Answer 10

essential thrombocythaemia, part of another MPV- PRV, CML

Question 11

reactive causes thrombocytosis

Answer 11

iron def, haemorrhage, severe haemolysis, trauma, infection, inflam, malignancy

Question 12

what happens in polycythaemia rubra vera

Answer 12

bone marrow erythropoiesis increases, incr thrombopoiesis, incr granulopoiesis

Question 13

what are the levels of erythropoietin in PRV

Answer 13

low

Question 14

how present is JAK2 mutation in PRV

Answer 14

> 95%

Question 15

features PRV

Answer 15

> 55yrs M=F. ruddy complexion- plethora, conjunctival suffsion, hyperviscosity- headaches and visual disturbances, thrombosis, pruritis, haemorrhage, enlarged spleen, gout

Question 16

lab findings PRV

Answer 16

incr Hb, Hct and RCC. 75% incr WCC and platelets. uric acid raised, LDH raised, EPO low

Question 17

bone marrow appearance PRV

Answer 17

hypercellular with prominent megakaryocytes

Question 18

is JAK2 present in all types JAK2

Answer 18

no only PRV

Question 19

treatment PRV

Answer 19

aspirin, multiple venesections, chemo- hydroxycarbamide. allopurinol

Question 20

prognosis PRV

Answer 20

median survival- 16 years. 30%- myelofibrosis, 5%- AML

Question 21

what is pseudo polycythaemia

Answer 21

in young male adults, especially smokers.

Question 22

test for congenital polycythaemia

Answer 22

Hb O2 dissociation curve to look for Hb variant with increased oxygen binding affinity

Question 23

what is essential thrombocythaemia

Answer 23

persistent elevation peripheral blood platelet count due to increased marrow production

Question 24

what % patients have jak2 mutation in ET

Answer 24

50%

Question 25

features ET

Answer 25

thrombosis, headaches, visual disturbance, excessive haemorrhage, splenomegaly 30%

Question 26

lab findings ET

Answer 26

platelet count persistently raised, often >1000, uric acid raised

Question 27

blood film ET

Answer 27

platelet anisocytosis (RBCs are different sizes) with circulating megakaryocytes

Question 28

treatment ET in patient

Answer 28

aspirin alone

Question 29

treatment ET

Answer 29

chemo- hydroxycarbamide, interferon, aspirin

Question 30

prognosis ET

Answer 30

median survival >20 years. thrombosis and haemorrhage main causes morbiditiy/mortality. 1-5% to AML, higher to myelofibrosis

Question 31

what is primary myelofibrosis

Answer 31

excessive scar tissue forms in bone marrow

Question 32

what is primary myelofibrosis characterised by

Answer 32

haemopoiesis in the spleen and liver- hepatosplenomegaly

Question 33

presentation myelofibrosis

Answer 33

hypermetabolic symptoms, night sweats, weight loss, fever, abdominal discomfort, Hb decr, infections, bleeding

Question 34

what is the blood film myelofibrosis

Answer 34

tear drop RBCs

Question 35

treatment myelofibrosis

Answer 35

marrow support- red cell transfusion, platelets, neutrophils. allogeniec stem cell transplant. chemo. thalidomide. splenectomy

Question 36

prognosis myelofibrosis

Answer 36

4-5 years, 20% to AML