Clinical manifestations and diagnosis of myelodysplastic syndromes (MDS)

https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-myelodysplastic-syndromes-mds

UpToDate, Literature review current through: Aug 2020

Jon C Aster, MD, Richard M Stone, MD

Section Editor: Richard A Larson, MD; Deputy Editor: Alan G Rosmarin, MD

INTRODUCTION

The myelodysplastic syndromes (MDS) comprise a group of hematologic malignancies characterized by clonal hematopoiesis, one or more cytopenias (ie, anemia, neutropenia, and/or thrombocytopenia), and abnormal cellular maturation. MDS shares clinical and pathologic features with acute myeloid leukemia (AML), but MDS has a lower percentage of blasts in peripheral blood and bone marrow (by definition, <20 percent). Patients with MDS are at risk for symptomatic anemia, infection, bleeding, and transformation to AML, the incidence of which varies widely across MDS subtypes.

The pathogenesis, epidemiology, clinical manifestations, pathologic features, and diagnosis of MDS are reviewed in this topic.

The cytogenetics, prognosis, and treatment of MDS and therapy-related myeloid neoplasms are discussed separately. (See "Prognosis of the myelodysplastic syndromes in adults" and "Overview of the treatment of myelodysplastic syndromes" and "Therapy-related myeloid neoplasms: Epidemiology, causes, evaluation, and diagnosis" and "Cytogenetics and molecular genetics of myelodysplastic syndromes".)

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