myeloproliferative disorders 250821

Question 1

true vs relative polycythaemia

Answer 1

relative = plasma volume is low 
true = red cells increased plasma normal

Question 2

true polycythaemia causes in JAK2 mutation negative

Answer 2

increased EPO due to hypoxia or renal disease tumours, familial

Question 3

raised haematocrit JAK positive

Answer 3

polycythaemia or erythrocytosis

Question 4

JAK2 V617F

Answer 4

polycythaemia vera

Question 5

polycythaemia vera definition and symptoms

Answer 5

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

Question 6

investigations polycythaemia

Answer 6

high Hb, high plasma volume , high Hct, No circulating immature cells, high MCV, white cells normal

Question 7

essential thrombocythaemia

Answer 7

mainly involves megakaryocyte lineage, sustained thrombocytosis, thrombosis, bleeding, headaches, dizziness, visual disturbances,

Question 8

diagnostic criteria for essential thrombocythaemia

Answer 8

platelet count consistnetly above 600x 10^6, megakaryocyte abnormalities,

Question 9

chronic idiopathic myelofibrosis

Answer 9

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),

Question 10

diagnosis of chronic idiopathic myelofibrosis

Answer 10

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

Question 11

Chronic myeloid leukaemia mutation

Answer 11

BCR-ABL Ph Chr mutation

Question 12

CML symptoms

Answer 12

lethargy, hypermatabolism, thrombotic event e.g. mono-ocular blindness, CVA, bruising, bleeding

massive splenomegaly, hepatomegaly,

Question 13

CML bloods

Answer 13

Hb and platelets are normal or raised, massive leucocytosis , neutrophils myelocytes, basophilia

Question 14

phases of CML

Answer 14

chronic phase
accelerated phase
blast crisis blasts over 20%