myeloproliferative disorders 250821 Flashcards
true vs relative polycythaemia
relative = plasma volume is low true = red cells increased plasma normal
true polycythaemia causes in JAK2 mutation negative
increased EPO due to hypoxia or renal disease tumours, familial
raised haematocrit JAK positive
polycythaemia or erythrocytosis
JAK2 V617F
polycythaemia vera
polycythaemia vera definition and symptoms
independent not EPO driven increased production of RBCs accompanied by different degrees of increase in platelets or granulocytic cells
symptoms = headaches, light headedness, stroke, visual disturbances, fatigue, dyspnoea, increased histamine release - aquagenic pruritus, peptic ulceration, splenomegaly, plethora, eryhtomelalgia, gout thrombosis
investigations polycythaemia
high Hb, high plasma volume , high Hct, No circulating immature cells, high MCV, white cells normal
essential thrombocythaemia
mainly involves megakaryocyte lineage, sustained thrombocytosis, thrombosis, bleeding, headaches, dizziness, visual disturbances,
diagnostic criteria for essential thrombocythaemia
platelet count consistnetly above 600x 10^6, megakaryocyte abnormalities,
chronic idiopathic myelofibrosis
clonal myeloproliferative disease with proliferation mainly of megakaryocytes and granulocytic cells associated with reactive bone marrow fibrosis and extramedullary haemopoeises
clinical presentation: thrombocytosis, cytopaenias, splenomegaly, hypermetabolic state (weight loss fatigue etc),
diagnosis of chronic idiopathic myelofibrosis
pre-fibrotic = blood changes are mild, hypercellular marrow fibrotic = splenomegaly, blood changes, dry tap, prominent collagen fibrosis, later osteosclerosis
blood film - leucoerythroblastic, extramedullary haemopoiesis in liver and spleen, bone marrow dry tap, trephine biopsy shows increased reticulin or collagen fibrosis
Chronic myeloid leukaemia mutation
BCR-ABL Ph Chr mutation
CML symptoms
lethargy, hypermatabolism, thrombotic event e.g. mono-ocular blindness, CVA, bruising, bleeding
massive splenomegaly, hepatomegaly,
CML bloods
Hb and platelets are normal or raised, massive leucocytosis , neutrophils myelocytes, basophilia
phases of CML
chronic phase
accelerated phase
blast crisis blasts over 20%