Chronic Myeloproliferative Disorders and Chronic Myeloid Leukaemia

Question 1

What are chronic myeloproliferative disorders?

Answer 1

Chronic overproduction of myeloid cells

Question 2

What is polycythaemia vera?

Answer 2

Increased number of RBCs (+/- neutrophils; +/- platelets)

Question 3

What is essential thrombocythaemia?

Answer 3

Increased number of platelets

Question 4

What is myelofibrosis?

Answer 4

Variable cytopenias with LARGE spleen and fibrosis(distinguished from other causes of splenomegaly)

Question 5

What are the symptoms of polycythaemia vera?

Answer 5

Plethoric face (red face) 
Gout
Itching
Headache
Tinnitus
Gangrene of toes/fingers

Question 6

What are the signs of polycythaemia vera?

Answer 6

Retinal veins engorgment
Plethoric face
SPLENOMEGALY

Question 7

What is the diagnosis of polycythaemia vera?

Answer 7

Persistent increase in Hb > 0.5 ratio of constituents (RBC, buffy coat and plasma)

Question 8

When diagnosing polycythaemia vera, what questions do we need to consider?

Answer 8

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)

Question 9

What investigative test should be performed?

Answer 9

FBC and ferritin (full blood count and iron)

EPO

UE/LFT (liver and kidney function tests)

Question 10

Name some causes for secondary polycythaemia?

Answer 10

Altitude 
EPO production tumours
Chronic lung disease
Heart disease
Smoking
Drug associated 
Congenital

Question 11

What genetic mutations are associated with polycythaemia vera?

Answer 11

JAK2

EXON12

Question 12

What is the treatment for polycythaemia vera?

Answer 12

Venesection - extract blood with aim of maintain hematocrits level below 0.45

Aspirin - COX2 inhibitor - blood thinner

Question 13

What are the causes of secondary ‘reactive’ thrombocytocis?

Answer 13

inflammation 
surgery
infection
malignancy 
iron deficiency 
Haemolysis etc

Question 14

What is wrong with primary thrombocytosis?

Answer 14

Thrombosis risk

Question 15

What is the definition of thrombocytosis?

Answer 15

Persistent platelet above 450 X 10^9

Question 16

What are the mutation associated with thrombocytosis?

Answer 16

JAK2 mutation

CALR

Question 17

How is thrombocytosis treated?

Answer 17

Assess thrombotic risk

Antiplatelt treatment i.e. aspirin

Cytoreduction if high risk e.g. hydroxycarbomide, interferon

Question 18

What are both patients with thrombocytosis or polycythaemia at risk of developing?

Answer 18

Myelofibrosis

Acute myeloid leukaemia

Question 19

What are the major presenting features of myelofibrosis?

Answer 19

Cytopenia

Splenomegaly - due to bone marrow fibrosis (spleen take over function)

B cell symptoms - night sweats, fever, weight loss

Question 20

What are the diagnostic features of myelofibrosis?

Answer 20

Blood film
CALR mutation
JAK2 mutations
Bone marrow results

Question 21

What are the causes of splenomegaly? (CHICAGO)

Answer 21

Cancer
Haematological 
Infection
Congestion e.g. liver
Autoimmune
Glycogen storage
Other e.g. amyloid

Question 22

What is the treatment for myelofibrosis?

Answer 22

• Supportive treatment e.g. EPO
• JAK2 Inhibitor
• Bone marrow transplant

Poor prognosis - 5 yrs

Question 23

What are the main characteristics of chronic myeloid leukaemia?

Answer 23

Leucocytosis
Splenomegaly
Anaemia

Question 24

What is the main cause of chronic myeloid leukaemia?

Answer 24

Philadelphia chromosome (translocation 9:22)

Question 25

What its the treatment for chronic myeloid leukaemia?

Answer 25

Imatinib - tyrosine kinase inhibitor