Myeloproliferative Disorders Flashcards
What are myeloproliferative disorders
Chronic myeloid leukemia: too many myeloid cells
Poycythaemia rubra vera: too many red blood cells
Essential thrombocytopenia: too many platelets
Myelofibrosis: excessive fibrosis in the marrow secondary to probable ET/PRV (scarring of bone marrow)
What is the genetic abnormality of polycythaemia rubra vera, essential thrombocytopenia and primary myelofibrosis
JAK 2 mutation
What is JAK2
A signalling protein
What is polycythaemia vera
Too many red blood cells
What is the clinical presentaion of polycythaemia vera
Red face Prutitus after hot bath Palpable spleen Headache Diziness Blurred vision
Whta are the signs of polycthaemia vera
Plethora
Conjunctival suffusion
Trendeny to thrombosis
Tendencing to bleeding
What are the causes of polycythaemia vera
JAK2 positive Hypoxia: low oxygen Smoking Lung disease Cyanotic heart disease Altitude Rare tumours Rare hb variatns Too much erythropoietin
What is the treatment of polycthaemia vera
Reduce the risk of thrombosis and haemorrhage
Minimise the risk of transformation to acute leukemia and myelofibrosis
What does the therapy for polycythaemia vera involve
Venesection
Anti platelet treatment with aspirin
Hydroxycarbamide for thrombocytosis
What is essential thrombocytopenia
Too many platelets
What is the clinical feature of essential thrombocytopenia
Vascular events of: thrombosis, microvascular occlusive symptoms Erythomelagia Acroparathaesia Digital ischaemia Too many bleeding
What is the dignosis of essential thrombocytopenia by
Look at platelet count
Look for JAK2 mutation
Rule out no other myeloid malignancy e.g CML
No reacitive cuase for thrombocytopenia and normal iron stores
Bone marrow aspiration of trephine biopsy
What is the treatment of essential thrombocytopenia
Hydroxyurea
Anagrelise (platelet inhibitor)
Low dose peglated IFN alpha 2a
What is myelofibrosis
Scarring of the bone marrow
What are the features of myelofibrosis
Splenomegaly Spleen pain Fevers, sweats, backpain Infections Hepatomegaly Marrow failure Hypermetabolic symptoms Hyperuricaenia
How is myelofibrosis diagnosed
Bone marrow biopsy
Pathogenic mutations
What are the features of myelofibrosis on a blood film
Tear drop shaped RBC
Large platelet
Myelocyyte
Nucleated red cell
What is the treatment of myelofibrosis
JAK inhibitor of ruxolitinib
What is chronic myeloid leukemia
Type of myeloproliferative disease; accumulation of myeloid progenitor cells, high WBC and large spleen
What is the cause of CML
Translocation of chromosome 9 and 22 resulting in BCR-ABL gene
What is the treatment of CML
Imatinib (tyrosine kinase inhibitor)
What is myelodysplasia
Bone marrow cancer
What does myelodysplasia present as
anaemia
Neutropenia
Thrombocytopenia
What are the causes of myelodysplasia
secondary to chemotheraoy
Genetic abnormality
What does myelodysplasia give rise to
Reduced mature rbc, platelets, white cell that are less functinoine
Blasts accumulating due to mature failure
What is the treatment of myelodysplasia
Blood transfusion
