myeloproliferative disorders Flashcards
pathophysiology of myeloproliferative disorder
clonal haematopoietic stem cell disorder with increase in one or more type of cells
mature cells not blasts
is maturation preserved
yes
sub types of myeloproliferative disorders
BCR-ABL1 positive
BCR-ABLE1 negative
example of BCR-ABL1 positive , what is there an excess of in this
chronic myeloid leukaemia - too many granulocytes
examples of BCR-ABL1 negative , what is in excess in these
essential thrombocythaemia - excess platelets
polycythaemia vera - excess RBC
primary myelofibrosis
what blood marker should make you consider Myeloproliferative
high WCC with no reactive explanation
what happens in chronic myeloid leukaemia
proliferation of granulocytess and precursors possibly platelets too
if untreated in the chronic phase what may happen in chronic myeloid leukaemia. how is it prevented
blast crisis
stem cell transplant in chronic phase
how would chronic myeloid leukaemia present
asymp splenomegaly hypermetaboli- wgt loss, sweats gout priapism- erect penis
what would be seen in on biposy of chronic myeloid leaukaemia
hypercellularity
leucocytosis with neutrophilis adn some myeloid precursors, eosinophilia adn basophilia
philadelphia chromosome
chronic myeloid leukaemia
what is the philadelphia chromosome translocation adn what does it result in
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
treatment of chronic myeloid leukaemia
tyrosine kinase inhibitors - imatinib
diagnostic testing for chronic myeloid leukaemia
genetic testing
what age gets BCR-ABL negative disorders
over 65s norm
symptoms of BCR ABL negative disorders
aymp increases cellularity turnover - gout fatigue, wgt loss, sweats splenomegaly marrow failure thrombosis arterial or venous
what is seen in polycythaemia vera
high Hb and haematocrit by erythrocytosis
what is pseudopolyythamia causes
dehdration, diuretics, obesity
symptoms of polycythamia vera
headache fatigue, itch after warm water exposure
what is the mutation involved in polycythaemia vera and what is it
JAK2 mutation
a kinase mutation results in loss of auto inhibition
activation of erythropoiesis in absence of erythropioetin
treatment of polycythaemia vera
venesect to haematorcrit< 0.45
aspirin
hydroxycarbamide
what is essential thrombocythaemia
platelet overproduction also large platelets
at high levels can casue acquired VW disease therefore bleeding
symptoms of essential throbocythaemia
thrombosis and bleeding (acquired VW disease)
treatment of essential throbocythaemia
aspirin
hydroxycarbamide
what is myelofibrosis
marrow replaced with fibrosed tissue therefore marrow failure
what is seen on blood film in myelofibrosis
leucoerythroblastic blood bilm
neutrohpjil and rbc precursors
tear drop red cells on blood film (poikilocytes)
primary myelofibrosis
treatment of primary myelofibrosis
supportive - transfusion, platelets, antibiotics
allogenic stem cell transplant
splenectomy
Jak2 inhibitors
