Flashcards in Chronic Myeloproliferative Disorders and Chronic Myeloid Leukaemia Deck (25):
1
What are chronic myeloproliferative disorders?
Chronic overproduction of myeloid cells
2
What is polycythaemia vera?
Increased number of RBCs (+/- neutrophils; +/- platelets)
3
What is essential thrombocythaemia?
Increased number of platelets
4
What is myelofibrosis?
Variable cytopenias with LARGE spleen and fibrosis(distinguished from other causes of splenomegaly)
5
What are the symptoms of polycythaemia vera?
Plethoric face (red face)
Gout
Itching
Headache
Tinnitus
Gangrene of toes/fingers
6
What are the signs of polycythaemia vera?
Retinal veins engorgment
Plethoric face
SPLENOMEGALY
7
What is the diagnosis of polycythaemia vera?
Persistent increase in Hb > 0.5 ratio of constituents (RBC, buffy coat and plasma)
8
When diagnosing polycythaemia vera, what questions do we need to consider?
Is it relative or absolute polycythaemia (e.g. is it just reduced amount of plasma (dehydration) or increased RBCs)
Primary vs secondary (is something else causing increased RBCs (e.g. EPO at altitude)
9
What investigative test should be performed?
FBC and ferritin (full blood count and iron)
EPO
UE/LFT (liver and kidney function tests)
10
Name some causes for secondary polycythaemia?
Altitude
EPO production tumours
Chronic lung disease
Heart disease
Smoking
Drug associated
Congenital
11
What genetic mutations are associated with polycythaemia vera?
JAK2
EXON12
12
What is the treatment for polycythaemia vera?
Venesection - extract blood with aim of maintain hematocrits level below 0.45
Aspirin - COX2 inhibitor - blood thinner
13
What are the causes of secondary 'reactive' thrombocytocis?
inflammation
surgery
infection
malignancy
iron deficiency
Haemolysis etc
14
What is wrong with primary thrombocytosis?
Thrombosis risk
15
What is the definition of thrombocytosis?
Persistent platelet above 450 X 10^9
16
What are the mutation associated with thrombocytosis?
JAK2 mutation
CALR
17
How is thrombocytosis treated?
Assess thrombotic risk
Antiplatelt treatment i.e. aspirin
Cytoreduction if high risk e.g. hydroxycarbomide, interferon
18
What are both patients with thrombocytosis or polycythaemia at risk of developing?
Myelofibrosis
Acute myeloid leukaemia
19
What are the major presenting features of myelofibrosis?
Cytopenia
Splenomegaly - due to bone marrow fibrosis (spleen take over function)
B cell symptoms - night sweats, fever, weight loss
20
What are the diagnostic features of myelofibrosis?
Blood film
CALR mutation
JAK2 mutations
Bone marrow results
21
What are the causes of splenomegaly? (CHICAGO)
Cancer
Haematological
Infection
Congestion e.g. liver
Autoimmune
Glycogen storage
Other e.g. amyloid
22
What is the treatment for myelofibrosis?
-Supportive treatment e.g. EPO
-JAK2 Inhibitor
-Bone marrow transplant
Poor prognosis - 5 yrs
23
What are the main characteristics of chronic myeloid leukaemia?
Leucocytosis
Splenomegaly
Anaemia
24
What is the main cause of chronic myeloid leukaemia?
Philadelphia chromosome (translocation 9:22)
25