Chronic myeloproliferative disorders Flashcards
(23 cards)
What is a myeloproliferative disorder?
Multiplication of cells of bone marrow lineage
Clonal haemopoietic stem cell disorders with an increased production of one or more types of haemopoietic cells
Maturation of cells relatively preserved
Sub types of myeloproliferative disorders?
BCR-ABL1 negative
BCR-ABL1 positive
BCR-ABL1 negative?
Idiopathic myelofibrosis
Essential thrombocythaemia
Polycythaemia rubra vera
BCR-ABL1 positive?
Chronic myeloid leukaemia
When to consider MPD?
High granulocytes High RBC High PTs Eosino/basophilia Splenomegaly Thrombois in an unusual place
What is chronic myeloid leukaemia?
Uncontrolled proliferation of myeloid cells eg granulocytes + precursors and platelets
Fatal without stem cell/bone marrow transplantation in chronic phase
Features of CML?
Assymptomatic Splenomegaly Hypermetabolic syndrome Gout Misc
Lab changes in CML?
Normal/decreased Hb Leucocytosis Neutrophilia Eosinophilia Basophilia Thrombocytosis
Genetics of CML?
Philadelphia chromosome resulting in BCR-ABL1 gene
Tyrosine kinase which cause abnormal phosphorylation leading to haem changes
Responds to tyrosine kinase inhibitors eg imatinib
Features common to MPD?
Asymptomatic Increased cell turnover (gout, fatigue, wt loss, sweats) Symptoms os splenomegaly Marrow failure Thrombosis
What is polycythaemia rubra vera?
High haemoglobin/haematocrit accompanied by erythrocytosis
Secondary polycythaemia causes?
Chronic hypoxia
Smoking
Epo tumour
Pseudopolycythaemia?
Dehydration, diuretic therapy, obesity
PRV features?
Common to MPD
Headache
Fatigue (as blood viscosity raised)
Itch (aquagenic pruritus)
Ix of PRV?
History
Examination
FBC, film
JAK 2 Mutation (95%)
Results of JAK 2 mutation>
Mutation results in loss of auto-inhibition
Activation of erythropoiesis in absence of ligand
PRV treatment?
Venesect to haematocrit<0.45
Aspirin
Oral chemo eg hydroxycarbamide
What is essential thrombocytosis?
Uncontrolled production of abnormal platelets
Causes thrombosis
At high levels can cause bleeding due to acquired von Willebrand disease
Features of ET?
Common to MPD (Particularly) vasoocclusive)
Bleeding
ET diagnosis?
Exclude reactive thrombocytosis immediately (blood loss, inflammation, malignancy, iron deficiency)
Exclude CML
Jak2 in 50%
CALR in those without mutant JAK2
Bone marrow
ET treatment?
Anti platelets
Cytoreductive eg hydroxycarbamide, anagrelide, interferon alpha
Features of Idiopathic myelofibrosis?
Marrow failure Bone marrow fibrosis Extramedullary haematopoiesis Leukoerythroblastic film appearances Teardrop shaped RBC in peripheral blood
Splenomeg
Hypercatabolism
Treatment of MF?
Supportive(Transfuse, pts, abx)
Allogenic stem cell transplant
Splenectomy (although controversial)
