Myelodysplastic syndrome - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Myelodysplastic syndrome or myelodysplastic neoplasm (MDS) is primarily a disease of older adults. It is often diagnosed incidentally in asymptomatic patients. Some patients present with symptoms of anemia, leukopenia, and thrombocytopenia.
Diagnosis is confirmed if blood and bone marrow evaluation reveals cytopenias, morphologic dysplasia, clonal cytogenetic abnormalities or molecular mutations, and blasts (classically <20%).
Supportive care is central to management and includes: red blood cell (RBC) transfusions with iron chelation support (for anemia); platelet transfusions (for thrombocytopenia and bleeding); and anti-infective therapy (e.g., antibiotics).
Treatment is guided by risk assessment, disease type/characteristics, symptoms/severity of cytopenias, and erythropoietin levels. Treatment includes drug therapy (e.g., lenalidomide, erythropoiesis-stimulating agents, hypomethylating agents, luspatercept, imetelstat, immunosuppressive therapy [antithymocyte globulin], ivosidenib) and allogeneic stem cell transplantation (for select patients e.g., those with high-risk disease).
Patients may have a prolonged disease course (i.e., with anemia, thrombocytopenia, neutropenia), or may progress rapidly to acute myeloid leukemia (AML). Most deaths occur due to complications from MDS (e.g., infection) before progression to AML.

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History & Exam
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Definition

Epidemiology

Etiology

Pathophysiology

Images

Blood film showing normal neutrophil (right) and dysplastic neutrophil with agranular cytoplasm and hypolobated nucleus
Large mononuclear megakaryocyte in bone marrow of patient with MDS-del(5q)

Citations

Key Articles

Killick SB, Wiseman DH, Quek L, et al. British Society for Haematology guidelines for the diagnosis and evaluation of prognosis of adult myelodysplastic syndromes. Br J Haematol. 2021 Jul;194(2):282-93.[Abstract][Full Text]
Killick SB, Ingram W, Culligan D, et al. British Society for Haematology guidelines for the management of adult myelodysplastic syndromes. Br J Haematol. 2021 Jul;194(2):267-81.[Abstract][Full Text]
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: myelodysplastic syndromes [internet publication].[Full Text]
Fenaux P, Haase D, Santini V, et al; ESMO Guidelines Committee. Myelodysplastic syndromes: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021 Feb;32(2):142-56.[Abstract][Full Text]

Other Online Resources

IPSS-M risk calculator
MDS Foundation: Revised International Prognostic Scoring System (IPSS-R) for myelodysplastic syndromes risk assessment calculator

Referenced Articles

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