Diagnosis
Minimal Diagnostic Criteria for MDS:
1. Sustained unexplained cytopenia:
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2. Morphological myelodysplasia:
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3. Acquired clonal cytogenetic abnormality in hematopoietic cells or persistent cytopenia >6 months
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Clinical and Blood work
- MDS often presents with pancytopenia
- Single lineage cytopenia less common
- Organomegaly very rare
- Macrocytosis is common (elevated MCV)
- Fetal Hb is often slightly elevated
- Leukocyte count low to normal - absolute or functional cytopenia
Bone Marrow
- Hypercellular or normocellular bone marrow
- Dysplastic features:
- Megaloblastic erythropoiesis
- Bizarre small or unusual large megakaryocytes
- Dysgranulopoiesis
- Percent of myeloblasts may be increased but is less than 20%
Differential Diagnosis
Disorders which may present with similar morphological features include:
- Viral infections (eg. CMV, HHV, parvovirus)
- Vitamin deficiencies (B12, folate, E)
- PNH
- Other disorders:
- Rheumatological
- Metabolic
- Autoimmune