Synopsis
Recognise persistent unexplained cytopenia, prove a clonal myeloid disorder, distinguish reversible mimics, stratify progression risk and combine supportive, disease-modifying and transplant care.
- Suspect MDS with persistent unexplained macrocytic anaemia, bi- or pancytopenia, hypogranular neutrophils, pseudo-Pelger-Huët cells, abnormal platelets or circulating blasts.
- First-line assessment excludes B12, folate, iron and copper deficiency, alcohol, medicines, renal, liver, thyroid, infection, autoimmune and splenic causes before marrow interpretation.
- Confirm with marrow aspirate and trephine for morphology, cellularity, fibrosis and blasts plus cytogenetics and a myeloid molecular panel; one dysplastic-looking film is insufficient.
Key red flags
Fever, rigors, hypotension or confusion with neutropenia is a medical emergency requiring immediate empiric intravenous antibiotics.
Rapid worsening cytopenia, new blasts, fever, bone pain or tissue disease suggests AML evolution and accelerates classification.
Investigation priorities
Prevent nutrient, medicine, infection or organ disease being mislabelled as a clonal neoplasm.
Management branches
One or more blood counts remain low without a clear transient cause.
- Repeat FBC, reticulocytes and film and assess nutrition, medicines, alcohol, organs, infection, autoimmune disease and spleen.
- Perform marrow aspirate and trephine with morphology, flow, cytogenetics and molecular testing when cytopenia remains unexplained.
Key medicines
AzacitidineGive 75 mg/m² subcutaneously once daily on days 1 to 7, followed by 21 treatment-free days in each 28-day cycle; continue for at least 6 cycles and thereafter while benefit persists or until disease progression.
Epoetin alfaA common lower-risk MDS starting regimen is 30,000 international units subcutaneously once weekly, escalating to 60,000 units weekly if protocol response is inadequate after 8 weeks; stop if no meaningful erythroid response after the defined trial.