Chronic Myeloproliferative Disorders & Chronic Myeloid Leukaemia Flashcards
1
Q
Name some chronic myeloproliferative disorders
A
- Clonal stem cell disorders of the marrow
- Malignancy
- Polycythaemia Vera= inc red cells
- Essential thrombocytosis= inc platelets
- Idiopathic myelofibrosis= variable cytopenias with large spleen
2
Q
What are the signs & symptoms of polycythaema vera?
A
- Insidious
- Plethoric face
- Itching (hot bath)
- Headache, muzziness
- Tinnitus
- Gout
- Gangrene of toes
- Splenomegaly
- Engorged retinal veins
3
Q
Describe secondary polycythaemia?
A
- Central hypoxic process
- EPO production tumours
- Congenital
- Idiopathic erythrocytosis
- Renal disease
- Drug associated
4
Q
What is the role of Janus Kinases?
A
JAK= signalling pathwayfor cytokine receptors
5
Q
What disorder does a JAK2 mutation lead to?
A
- JAK2 utation in periphera blood DNA is diagnostic of Myeloproliferative disorders
- Occurs in JH2 domain
- G to T mutation
- Destroys a BsaXI site
6
Q
What is the treatment for polycythaemia vera?
A
- Aspirin daily
- Venesections
7
Q
What are the types of thrombocytosis?
A
- Reactive thrombocytosis (surgery, infection, inflammation, malignancy, iron)
- Primary essential thrombocytosis
8
Q
Describe a CALR mutation?
A
- Calreticulin mutation
- Cell signalling protein produced in endoplasmic reticulum
- Mutation in EXON9 gene
- Found in myeloid progenitors
9
Q
How is thrombotic risk assessed?
A
- Age
- Hypertension
- Diabetes
- Platelet count >1500
- History of thrombosis
10
Q
How does myelofibrosis present?
A
- Pancytopenia
- Massive splenomegaly
11
Q
What are the causes of splenomegaly?
A
- CHICAGO
- C=cancer
- H=haematological-myelofibrosis
- I=infection-schistosomiasis, malaria
- C=congestion-liver disease/portal
- A=autoimmune-haemolysis
- G=Glycogen storage disorders
- O=other-amyloid
12
Q
What is chronic myeloid leukaemia characterised by?
A
- anaemia
- splenomegaly
- leucocytosis+++
13
Q
What are predictable symptoms of chronic myeloid leukaemia?
A
- Abdominal discomfort=splenomegaly
- Abdominal pain= splenic infarction
- Fatigue= anaemia, catabolic state
- Gout=hyperuricaemia
- Venous occlusion=retinal vein, DVT, priapism
14
Q
Describe myeloid leukaemia
A
- Pluripotent stem cell disorder
- t(9;22) translocation-philadelphia
- Driven by BCR-ABL fusion tyrosine kinase lead to imatinib resistance
15
Q
What symptom is most suggestive of acute myeloid leukaemia?
A
Gum hypertrophy
