polycythaemia

Question 1

define polycythaema

Answer 1

Polycythaemia is a myeloproliferative disorder where the bone marrow overproduces RBCs, typically due to a JAK2 Mutation

Question 2

pathophysiology of polycythaemia

Answer 2

1. revolves around an excess of red cell count and haemoglobin concentration.
2. It is a myeloproliferative disorder
   and is the neoplasia of mature
   myeloid cells in the bone marrow
   and are typically associated with red
   blood cells (Primary).
3. It could also
   be due to increased EPO
   production (Secondary)

Question 3

what is the most common type of polycythaemia

Answer 3

Polycythaemia vera

Question 4

what causes polycythaemia vera

Answer 4

mutation in the JAK2 gene.

Question 5

what does JAK2 do

Answer 5

When JAK2 is activated, it causes the rapid proliferation of haematopoietic stem cells, when
mutated it stays activated and ultimately leads to an increase in RBC count.

Question 6

symptoms of polycythaemia

Answer 6

• Itchiness/Pruritis (ESP AFTER A
  HOT BATH!!)
• Erythromelalgia (burning in
  fingers and toes)
• Blurred Vision
• Fatigue
• Dizziness
• Headache
• Hyperviscosity symptoms

Question 7

signs of polycythaemia

Answer 7

*Splenomegaly
* Plethoric (reddish) complexion
* Conjunctival plethora
* Hypertension

Question 8

2 investigation for polycythaemia

Answer 8

1. FBC
2. genetic tests

Question 9

what does polycytahemia FBC show

Answer 9

increased WBC,
RBC, Platelets and
Haemoglobin

Question 10

what does polycythaema genetic testing show

Answer 10

JAK2
Positive

Question 11

treatment for polycythaemia

Answer 11

Aim to maintain normal blood
count, reduce RBC levels
* Venesection
* Aspirin
* Cytoreductive therapy (reduces
erythropoiesis)
o Hydroxycarbamide
o Interferon, JAK2 Inhibitors
o Busulfan