Myelofibrosis

Question 1

Define:

Answer 1

Haemopoetic stem cell disorder where cells of the bone marrow are replaced with connective tissue (fibrosis). This leads to extra medullary haematopoesis in spleen and liver/

Question 2

Aetiology:

Answer 2

Hyperplasia of megakaryocytes that leads to a release of cytokines and platelet derived growth factors.

This leads fibroblasts to deposit collagen and blast proliferation.

The primary stem cell defect is unknown

30% are associated with polycyathemia vera and thrombocythaemia

Question 3

Risk factors:

Answer 3

> 65 years
Exposure to radiation
Hiroshima survivor

Question 4

Epidemiology:

Answer 4

Very rare

peaks at 50-70 years

Question 5

Symptoms:

Answer 5

Usually Asymp
Fever
Night sweats 
Weight loss
Anorexia 
Abdo discomfort
Pruritis 

Uncommon:
Bone pain 
LUQ pain 
indigestion (due to the splenomegaly)
Bleeding 
Infections 
gout

Question 6

Signs:

Answer 6

Splenomegaly 
Hepatomegaly (50-60%)
Pallor
Petechiae
Haemarthrosis
Blood on PR

Question 7

Investigations:

Answer 7

FBC - at the start will be variable and then will show anaemia, leukopenia and thrombocytopenia

Bone marrow biopsy/aspirate - dry tap as fibrosis. Will show hypercellular BM with dense reticulin fibres on silver staining. DIAGNOSTIC.

LFTs- normal

Blood film - o Leucoerythroblastic changes (red and white cell precursors in the peripheral blood)
o ‘Tear drop’ poikilocyte red cells