Myelodysplasia

Question 1

Definition

Answer 1

A series of haematological conditions characterised by chronic cytopaenia (anaemia,
neutropaenia, thrombocytopaenia) and abnormal cellular maturation

Question 2

Sub groups

Answer 2

o Refractory anaemia (RA)
o RA with ringed sideroblasts (RARS)
o RA with excess blasts (RAEB)
o Chronic myelomonocytic leukaemia (CMML)
o RAEB in transformation (RAEB-t)

Question 3

Aetiology

Answer 3

• It may be PRIMARY (intrinsic bone marrow problem)
• It may arise in patients who have received chemotherapy or radiotherapy for previous
malignancies
• Patients may have chromosomal abnormalities

Question 4

Epidemiology

Answer 4

• Mean age of diagnosis: 65-75 yrs
• More common in MALES
• 2 x as common as AML

Question 5

Presenting symptoms

Answer 5

• May be ASYMPTOMATIC and diagnosed on routine blood counts

• Symptoms of Bone Marrow Failure
o Anaemia (fatigue, dizziness)
o Neutropaenia (recurrent infections)
o Thrombocytopaenia (easy bruising, epistaxis)

Question 6

Risk factors

Answer 6

o Occupational exposure to toxic chemicals

o Prior chemotherapy or radiotherapy

Question 7

Signs on physical examination

Answer 7

Signs of bone marrow failure

o Anaemia (pallor, cardiac flow murmur)
o Neutropaenia (infections)
o Thrombocytopaenia (purpura or ecchymoses)
o Gum hypertrophy
o Lymphadenopathy
o Spleen NOT enlarged (except in CMML)

Question 8

Investigations (bloods and blood film)

Answer 8

• Bloods
o FBC - pancytopaenia

• Blood Film
o Normocytic or macrocytic red cells 
o Variable microcytic red cells in RARS
o Low granulocytes
o Granulocytes are not granulated
o High monocytes in CMML

Question 9

Investigations (biopsy)

Answer 9

Bone marrow aspire or biopsy

o Hypercellularity
o Ringed sideroblasts (haemosiderin deposits in the mitochondria of erythroid precursors forming an apparent ring around the nucleus)
o Abnormal granulocyte precursors
o 10% show marrow fibrosis