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:

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

Author