Myeloproliferative disorders

Question 1

Polycythaemia vera- cause and symptoms

Answer 1

95% due to JAK2 mutation.
Raised RBCs.
Headaches, itching, thrombosis. Pruritus’ after a hot bath.

Question 2

PCV blood results and treatment

Answer 2

Erythrocytosis, often with thrombocytosis, leucocytosis and splenomegaly.

Aspirin, venesection, JAK2 inhibitors.

Question 3

Essential thrombocytopenia

Answer 3

Due to JAK2 in 50% of cases.
Raised platelets, often asymptomatic, thrombosis, splenomegaly.
Treat with aspirin, hydroxycarbamide, interferon alpha.

Question 4

Myelofibrosis- cause, symptoms and test results

Answer 4

Due to JAK2 in 50% of cases.
Progressive fibrosis of the bone marrow and eventual marrow failure.
Haematopoiesis occurs in the liver and spleen - organomegaly.
Fatigue, B symptoms, bone pain

FBC: raised WBCs and platelets early in disease.
Blood film- tear drop poikilocytes.
May get a dry tap.
Can transform to AML.