How can I differentiate between MDS and other causes of cytopenias in a primary care context?

Guideline-aligned answer with reasoning, red flags and references. Clinically reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP.

Posted: 17 August 2025 Guideline-Aligned (High Confidence) Clinically Reviewed
Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX

Differentiating between myelodysplastic syndromes (MDS) and other causes of cytopenias in a primary care setting primarily involves recognizing suspicious features and ruling out more common, benign causes before considering referral for specialist investigation ,. MDS is a group of clonal disorders of haematopoietic stem cells characterized by ineffective haematopoiesis and peripheral cytopenias, which can affect one or more cell lines (anaemia, neutropenia, thrombocytopenia) .

In primary care, the initial step for unexplained cytopenias is to perform a full blood count (FBC) ,. Key indicators that may raise suspicion for MDS or other haematological cancers include:

  • Persistent unexplained cytopenias affecting one or more cell lines, such as anaemia, neutropenia, or thrombocytopenia ,. MDS often presents with anaemia, but can also involve isolated neutropenia or thrombocytopenia, or a combination .
  • Abnormal white cell count, particularly unexplained neutropenia ,.
  • Unexplained bruising or bleeding, which could indicate thrombocytopenia ,.
  • Persistent unexplained fatigue, a common symptom of anaemia ,.
  • The presence of other systemic symptoms like unexplained weight loss, fever, night sweats, or lymphadenopathy, although these are less specific to MDS and can indicate other haematological malignancies ,.
  • Splenomegaly, which may be present in some cases of MDS, though it is more common in other myeloproliferative neoplasms .

Before considering referral for suspected MDS, it is important to investigate and exclude other common causes of cytopenias, which include:

  • Nutritional deficiencies (e.g., vitamin B12 or folate deficiency) ,.
  • Drug-induced cytopenias ,.
  • Chronic diseases (e.g., chronic kidney disease, liver disease, inflammatory conditions) ,.
  • Infections ,.
  • Autoimmune conditions ,.

If, after initial investigations, the cytopenias remain unexplained or there are features suggestive of a haematological malignancy, the patient should be referred for a suspected cancer pathway, typically to a haematologist ,. Definitive diagnosis of MDS requires a bone marrow examination, which is performed in secondary care .

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