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Myelodysplastic Syndrome (MDS)

A premalignant blood disorder characterized by impaired bone marrow cell maturation.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

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What is Myelodysplastic Syndrome (MDS)?

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, dysplasia in one or more blood cell lineages, peripheral cytopenias despite a hypercellular bone marrow, and varying risk of transformation to acute myeloid leukemia (AML). MDS predominantly affects older adults with median age at diagnosis of 70-75 years.

The pathogenesis involves acquired somatic mutations in hematopoietic stem cells affecting genes involved in RNA splicing (SF3B1, SRSF2), DNA methylation (TET2, DNMT3A, IDH1/2), chromatin modification (ASXL1, EZH2), transcription factors (RUNX1, GATA2), and tumor suppression (TP53). Environmental risk factors include prior chemotherapy/radiation, benzene exposure, smoking, and inherited bone marrow failure syndromes.

Risk stratification using IPSS-R (Revised International Prognostic Scoring System) considers blast percentage, cytogenetics, and severity of cytopenias to estimate prognosis and guide therapy. Lower-risk MDS may be managed supportively, while higher-risk MDS requires disease-modifying therapy or hematopoietic stem cell transplantation, the only curative option.

Symptoms

Fatigue and pallor from anemia (most common presentation)
Easy bruising or bleeding from thrombocytopenia
Recurrent infections from neutropenia
Shortness of breath on exertion
Petechiae or purpura on skin
Splenomegaly or hepatomegaly (less common)
Constitutional symptoms (weight loss, night sweats)
Often asymptomatic, discovered on routine blood test

Risk Factors

Age over 60 years (incidence rises sharply)
Male sex (slight predominance)
Prior chemotherapy or radiation (therapy-related MDS)
Occupational exposure: benzene, pesticides, organic solvents
Smoking
Family history of bone marrow failure syndromes
Inherited disorders: Fanconi anemia, dyskeratosis congenita, GATA2 deficiency
Aplastic anemia history

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent unexplained anemia, especially in older adults
  • Macrocytic anemia (MCV greater than 100) without B12/folate deficiency
  • Pancytopenia of unclear cause
  • Recurrent infections with neutropenia
  • Easy bruising or bleeding with thrombocytopenia
  • New transfusion dependence
  • Family history of MDS or hematologic malignancy
  • Suspected progression to acute leukemia

Treatment Methods

01
Risk stratification: IPSS-R and IPSS-M for prognosis and treatment selection
02
Lower-risk MDS supportive care: transfusions, iron chelation if iron overload, growth factors (EPO, G-CSF)
03
Lenalidomide: for transfusion-dependent del(5q) MDS
04
Erythropoiesis-stimulating agents: for anemia in low-risk MDS with low EPO levels
05
Luspatercept: for ring sideroblast MDS unresponsive to ESAs
06
Hypomethylating agents: azacitidine or decitabine for higher-risk MDS
07
Allogeneic hematopoietic stem cell transplantation: only curative option, eligible patients
08
Investigational therapies: venetoclax combinations, IDH inhibitors, immunotherapy in clinical trials

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.