myeloproliferative neoplasms Flashcards
what is a myeloproliferative disorder
condition where there is uncontrolled proliferation of a single type of stem cell
what is myelodysplastic syndrome
myeloid cells don’t mature properly and produce blasts instead of healthy RBCs
the blasts are immature and can’t carry out the normal functions - normally die in marrow or blood
the blast cells displace the normal bone marrow
what can myelodysplastic syndrome progress into
acute myeloid leukaemia
presentation of myelodysplastic syndrome
can be asymptomatic
anaemia
frequent/severe infection
purpura, easy bleeding/bruising
investigations for myelodysplastic syndrome
FBC - can thrombocytopenia, neutropenia, anaemia
blood film
bone marrow biopsy
risk factors for myelodysplastic syndrome
60+
previous chemo/radiotherapy
management of myelodysplastic syndrome
supportive blood transfusions erythropoetic growth factors chemo stem cell transplant
polycythaemia vera pathology
mutation in haematopoetic stem cell causes proliferation of erythroid cell line
increased RBC production
mutated cells become dominant cell type in the marrow
how does polycythaemia vera become myelofibrosis
in the ‘spent’ phase of the disease the mutated cells die and are replaced with scar tissue - fibrosis of bone marrow
presentation of polycythaemia vera
itch increased sweating red face and conjunctiva iron deficiency anaemia hyperviscosity stroke gout splenomegaly
investigations for polycythaemia vera
FBC - increased haematocrit, uric acid
serum ferritin
renal and liver function tests
genetic tests for JAK2
treatment of polycythaemia vera
venesection keep haematocrit below 0.45 in men and 0.43 in women aspirin hydroxycarbamide ruxolitinib
what does the JAK2 mutation do
it means the myeloid cells don’t need to be stimulated by erythropoietin to produce RBCs
myelofibrosis pathology
fibrosis of bone marrow
RBC production is reduced
liver and spleen start producing RBCs
presentation of myelofibrosis
splenomegaly
hepatomegaly
weight loss
fatigue
