Overview
Also known as myelodysplasia and pre-leukaemia, myelodysplastic syndrome (MDS) describes a group of malignant haematopoietic disorders characterised by dysplastic changes in one or more cell lineages, ineffective haematopoiesis, and a risk of progression to acute myeloid leukaemia (AML).
In essence, immature blood cells in the bone marrow do not mature properly.
Epidemiology
- Incidence is around 3.7 per 100,000 per year
- Usually seen in older patients >65 years
- More common in men
- More common in people who smoke
Risk Factors
- Age >70 years
- Male sex
- Smoking
- Fanconi anaemia
- Some chemotherapies, particularly alkylating agents
Presentation
Many patients are asymptomatic and myelodysplastic syndromes are picked up incidentally. Features depend on the cell lineage affected:
- Asymptomatic
- Features of anaemia: fatigue, pallor, dyspnoea
- Features of leukopenia: recurrent and severe infections
- Features of thrombocytopenia: bruising, bleeding
Investigations
All patients
- Full blood count (FBC) and white cell differential:
- Shows one or more cytopenias
- Reticulocyte count:
- Inappropriately normal or low for the severity of anaemia
- Due to the inability to generate new red blood cells
- Haematinics:
- To screen for other causes of anaemia
- B12 and folate are normal
- Iron studies are normal
- Bone marrow aspiration and biopsy:
- Shows dysplastic cells
Management
Overview
Supportive care through transfusion, granulocyte colony-stimulating factors (G-CSF), and stem cell transplantation. Treatment is currently evolving.
Complications
- Progression to acute myeloid leukaemia (AML)
- Consequences of bone marrow failure – anaemia, bruising, frequent and severe infections
Prognosis
- The prognosis varies significantly between patients
