Polycythemia

Question 1

What is polycythemia?

Answer 1

A high concentration of red blood cells in the blood

Question 2

What is polycythemia vera?

Answer 2

A myeloproliferative disorder that leads to an increase in red cell volume, often accompanied by an increase in neutrophils and platelets

Question 3

What genetic mutation is polycythemia vera associated with?

Answer 3

JAK2 mutation

Question 4

What are the features of polycythemia vera?

Answer 4

Pruritus
Splenomegaly
Hypertension
Arterial and venous thrombosis
Haemorrhage due to abnormal platelet function
Low ESR

Question 5

What investigations are used in the diagnosis of polycythemia vera?

Answer 5

JAK2 mutation testing
Full blood count
Blood film
Serum ferritin
U&E
LFTs

Question 6

What is the diagnostic criteria for JAK2 positive polycythemia?

Answer 6

Mutation in JAK2
High haematocrit (>0.52 in men, >0.48 in women)

Question 7

What is the management of polycythemia vera?

Answer 7

Venesection to keep Hb in range
Aspirin
Chemotherapy to control disease