Myelodysplastic syndrome is a form of cancer caused by a mutation in the myeloid cells in the bone marrow, resulting in inadequate production of blood cells (described as ineffective haematopoiesis). There are various types of myelodysplastic syndrome. It has the potential to transform into acute myeloid leukaemia.
Myelodysplastic syndrome causes low levels of blood components that originate from the myeloid cell line:
- Anaemia (low haemoglobin)
- Neutropenia (low neutrophil count)
- Thrombocytopenia (low platelets)
Pancytopenia is a combination of low red blood cells, white blood cells and platelets.
Risk factors are older age and previous chemotherapy or radiotherapy.
Presentation
Patients may be asymptomatic. It may be diagnosed after incidental findings on a full blood count.
They may present with symptoms of:
- Anaemia (fatigue, pallor or shortness of breath)
- Neutropenia (frequent or severe infections)
- Thrombocytopenia (bleeding and purpura)
Diagnosis
Full blood count will be abnormal. There may be blasts on the blood film.
Bone marrow biopsy is required to confirm the diagnosis.
Management
Depending on the symptoms, risk of progression and overall prognosis, the treatment options are:
- Watchful waiting
- Supportive treatment (e.g., blood or platelet transfusions)
- Erythropoietin (stimulates red blood cell production)
- Granulocyte colony-stimulating factor (stimulates neutrophil production)
- Chemotherapy and targeted therapies (e.g., lenalidomide)
- Allogenic stem cell transplantation (risky but potentially curative)
Last updated August 2023