Myeloproliferative Disease

Question 1

What mutation causes myeloproliferative disease?

Answer 1

JAK-2

Question 2

Pathology of myeloproliferative disease?

Answer 2

Increased megakaryocytes
->
Increased platelets
-> 
Thrombocytosis

Question 3

What are the two myeloproliferatives that can cause high platelets?

Answer 3

Polycythaemia vera

Essential thromboCYTHAEMIA

Question 4

What are secondary causes of thrombocytosis?

Answer 4

Altitude

COPD

Question 5

What is polycythaemia vera caused by?

Answer 5

mutation of stem cells in bone marrow
->
proliferation of ALL myeloid cells

Question 6

Typical presentation PRV?

Answer 6

60 y/o

Question 7

What increases the risk of PRV?

Answer 7

Renal cancer
- Increase EPO

Budd-chiari syndrome
- Portal vein occlusion

Question 8

Symptoms of PRV?

Answer 8

Erythromelalgia
Splenomegaly
Facial plethora
Headache

Question 9

What is erythromelalgia?

Answer 9

Redness of hands/feet causing pain

Question 10

Investigation of PRV?

Answer 10

FBC

Haematocrit

Question 11

What are the three crucial tests for thrombocytosis?

Answer 11

FBC

Haematocrit

Iron levels

Question 12

Treatment PRV?

Answer 12

Phlebotomy/venesection

Aspirin

Question 13

What haematocrit is aimed for when using venesection therapy?

Answer 13

0. 45 men

0. 43 women

Question 14

What can be done in PRV in high risk of TE events?

Answer 14

Cytoreduction

- Hydroxycarbimide

Question 15

What is the pathology of essential thrombocythaemia?

Answer 15

Megakaryocyte proliferation

Increased and abnormal platelets

Question 16

Symptoms of essential thrombocytopenia?

Answer 16

Erythromelalgia

AV thrombus

Question 17

Investigations?

Answer 17

FBC

Haematocrit

Iron levels

Question 18

What would low iron levels and thrombocythaemia indicate

Answer 18

Reactive thrombocythaemia

Question 19

Treatment essential thrombocythaemia?

Answer 19

Regular blood tests
Aspirin
Cytoreduction
- Hydroxycarbimide

Question 20

Typical presentation of myelofibrosis?

Answer 20

” 72 y/o woman presents for routine FBC. She has a platelet count of 650 and a raised WCC. She does mention she has lost some weight. O/e she has massive splenomegaly. “

Question 21

Symptoms of myelofbirosis?

Answer 21

Symptoms of high cell turnover

• Cachexia
• Low grade fever
• Night sweats
• Tiredness

Question 22

What sign is essential to diagnosis of myelofibrosis?

Answer 22

Splenomegaly

Question 23

Investigation myelofibrosis?

Answer 23

FBC

• Thrombocytosis
• Anaemia

Peripheral blood film
- Leukoerythroblasts

Bone marrow aspirate

• Dry tap
• Or shows fibrosis

JAK-2 genetic studies