myeloproliferative disorders

Question 1

pathophysiology of myeloproliferative disorder

Answer 1

clonal haematopoietic stem cell disorder with increase in one or more type of cells
mature cells not blasts

Question 2

is maturation preserved

Answer 2

yes

Question 3

sub types of myeloproliferative disorders

Answer 3

BCR-ABL1 positive

BCR-ABLE1 negative

Question 4

example of BCR-ABL1 positive , what is there an excess of in this

Answer 4

chronic myeloid leukaemia - too many granulocytes

Question 5

examples of BCR-ABL1 negative , what is in excess in these

Answer 5

essential thrombocythaemia - excess platelets
polycythaemia vera - excess RBC
primary myelofibrosis

Question 6

what blood marker should make you consider Myeloproliferative

Answer 6

high WCC with no reactive explanation

Question 7

what happens in chronic myeloid leukaemia

Answer 7

proliferation of granulocytess and precursors possibly platelets too

Question 8

if untreated in the chronic phase what may happen in chronic myeloid leukaemia. how is it prevented

Answer 8

blast crisis

stem cell transplant in chronic phase

Question 9

how would chronic myeloid leukaemia present

Answer 9

asymp
splenomegaly
hypermetaboli- wgt loss, sweats 
gout
priapism- erect penis

Question 10

what would be seen in on biposy of chronic myeloid leaukaemia

Answer 10

hypercellularity

leucocytosis with neutrophilis adn some myeloid precursors, eosinophilia adn basophilia

Question 11

philadelphia chromosome

Answer 11

chronic myeloid leukaemia

Question 12

what is the philadelphia chromosome translocation adn what does it result in

Answer 12

9 and 22- 9 fuses to 22

results in new chiameric gene BCR-ABL 1 on chromosme 22 that results in tyrosine kinase causing abnormal phosphorylation

Question 13

treatment of chronic myeloid leukaemia

Answer 13

tyrosine kinase inhibitors - imatinib

Question 14

diagnostic testing for chronic myeloid leukaemia

Answer 14

genetic testing

Question 15

what age gets BCR-ABL negative disorders

Answer 15

over 65s norm

Question 16

symptoms of BCR ABL negative disorders

Answer 16

aymp
increases cellularity turnover - gout fatigue, wgt loss, sweats 
splenomegaly
marrow failure
thrombosis arterial or venous

Question 17

what is seen in polycythaemia vera

Answer 17

high Hb and haematocrit by erythrocytosis

Question 18

what is pseudopolyythamia causes

Answer 18

dehdration, diuretics, obesity

Question 19

symptoms of polycythamia vera

Answer 19

headache fatigue, itch after warm water exposure

Question 20

what is the mutation involved in polycythaemia vera and what is it

Answer 20

JAK2 mutation
a kinase mutation results in loss of auto inhibition
activation of erythropoiesis in absence of erythropioetin

Question 21

treatment of polycythaemia vera

Answer 21

venesect to haematorcrit< 0.45
aspirin
hydroxycarbamide

Question 22

what is essential thrombocythaemia

Answer 22

platelet overproduction also large platelets

at high levels can casue acquired VW disease therefore bleeding

Question 23

symptoms of essential throbocythaemia

Answer 23

thrombosis and bleeding (acquired VW disease)

Question 24

treatment of essential throbocythaemia

Answer 24

aspirin

hydroxycarbamide

Question 25

what is myelofibrosis

Answer 25

marrow replaced with fibrosed tissue therefore marrow failure

Question 26

what is seen on blood film in myelofibrosis

Answer 26

leucoerythroblastic blood bilm

neutrohpjil and rbc precursors

Question 27

tear drop red cells on blood film (poikilocytes)

Answer 27

primary myelofibrosis

Question 28

treatment of primary myelofibrosis

Answer 28

supportive - transfusion, platelets, antibiotics
allogenic stem cell transplant
splenectomy
Jak2 inhibitors