Myelodysplasia

Question 1

Define

Answer 1

Heterogeneous group of disorders that manifest as marrow failure with risk of life-threatening infection a bleeding

→ Characterised by chronic cytopaenia (anaemia, neutropaenia, thrombocytopaenia) and abnormal cellular maturation

30% transform to acute myeloid leukaemia

Question 2

Causes

Answer 2

Most are primary disorders by the may also develop secondary to chemotherapy or radiotherapy

Patients may have chromosomal abnormalities – deletions (e.g. partial or total loss of chromosomes 5, 7, 20 or Y), monosomy 7, trisomy 8 or complex karyotypes with multiple abnormalities

Question 3

Epidemiology

Answer 3

Mean age of diagnosis: 65-75 yrs

More common in MALES

2 x as common as AML

Question 4

Risk factors

Answer 4

occupational exposure to toxic chemicals, prior chemotherapy or radiotherapy

Question 5

Symptoms

Answer 5

May be asymptomatic
Symptoms seen are those of BM failure:

↘ Anaemia (fatigue, dizziness)

↘ Neutropaenia (recurrent infections)

↘ Thrombocytopaenia (easy bruising, epistaxis)

Question 6

Signs

Answer 6

Signs of BM failure:

↘ Anaemia (pallor, cardiac flow murmur)

↘ Neutropenia (infections)

↘ Thrombocytopaenia (purpura, ecchymosis)

↘ Gum hypertrophy and lymphadenopathy

Pancytopenia is seen with ↓reticulocyte count
Marrow cellularity is usually increased due to ineffective haematopoiesis
Ring sideroblasts may also be seen in the marrow

Question 7

Investugation

Answer 7

Bloods

• FBC - pancytopaenia

Blood Film

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

Bone marrow aspire or biopsy

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