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MDS - Myelodysplastic Syndrome Explained

MDS (Myelodysplastic Syndrome) is a group of bone marrow disorders in which blood cell production is impaired, leading to an increased risk of anaemia and blood cancer.

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Things worth knowing about "MDS"

MDS (Myelodysplastic Syndrome) is a group of bone marrow disorders in which blood cell production is impaired, leading to an increased risk of anaemia and blood cancer.

What is Myelodysplastic Syndrome (MDS)?

Myelodysplastic Syndrome (MDS) refers to a group of disorders affecting the blood-forming system, in which the bone marrow is unable to produce enough healthy blood cells. The cells that are produced are often abnormal (dysplastic) and do not function properly. MDS is considered a pre-cancerous condition and can progress to acute myeloid leukaemia (AML) in a significant proportion of patients.

MDS predominantly affects older adults over the age of 60, although it can occasionally occur in younger individuals. Men are slightly more frequently affected than women.

Causes

The exact causes of MDS are often unclear. A distinction is made between primary MDS (no identifiable cause) and secondary MDS (triggered by external factors). Known risk factors include:

Exposure to chemicals such as benzene
Prior chemotherapy or radiation therapy for other cancers
Exposure to ionising radiation
Genetic mutations in blood-forming stem cells
Inherited conditions such as Fanconi anaemia

Symptoms

Symptoms of MDS arise from a shortage of functional blood cells. Depending on which cell line is affected, different complaints may occur:

Anaemia: Fatigue, weakness, pallor, shortness of breath
Thrombocytopenia (low platelet count): Increased tendency to bleed or bruise, prolonged bleeding
Neutropenia (low white blood cell count): Frequent infections, increased susceptibility to bacterial and fungal infections
General weakness and unintentional weight loss

In early stages, MDS often causes no symptoms and is discovered incidentally during routine blood tests.

Diagnosis

Diagnosing MDS requires several investigations:

Complete blood count (CBC) with differential: Identifies abnormal or reduced blood cell numbers
Bone marrow aspiration and biopsy: A sample of bone marrow is examined under a microscope for dysplastic cell changes
Cytogenetic analysis: Examination of chromosomes for genetic abnormalities in bone marrow cells
Molecular genetic testing: Detection of specific gene mutations such as SF3B1 or TP53

Based on findings, MDS is classified according to established systems (e.g., WHO classification) and a risk score (IPSS-R) is calculated to guide prognosis and treatment decisions.

Treatment

Treatment depends on the risk category of the disease, the age of the patient, and their overall health status.

Lower-Risk MDS

Supportive care: Blood transfusions and erythropoiesis-stimulating agents (ESAs) to manage anaemia
Iron chelation therapy: To prevent iron overload caused by repeated transfusions
Growth factors: G-CSF to support neutrophil production
Lenalidomide: Particularly effective in MDS with deletion of the long arm of chromosome 5 (del(5q))

Higher-Risk MDS

Hypomethylating agents: Azacitidine or decitabine, which correct abnormal DNA methylation in bone marrow cells
Allogeneic stem cell transplantation: The only potentially curative treatment option; suitable for younger patients in good overall health
Chemotherapy: Considered in certain cases, especially when MDS has transformed into AML

Prognosis

The prognosis in MDS is highly variable. Some patients with low-risk disease can live stably for many years, while those with high-risk disease may progress more rapidly. The risk of transformation into acute myeloid leukaemia (AML) depends strongly on the subtype and the IPSS-R score. Early diagnosis and close medical follow-up are essential for maintaining the quality of life of those affected.

References

Arber DA et al. - The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405.
Greenberg PL et al. - Revised International Prognostic Scoring System for Myelodysplastic Syndromes. Blood. 2012;120(12):2454-2465.
National Comprehensive Cancer Network (NCCN) - Clinical Practice Guidelines in Oncology: Myelodysplastic Syndromes. Version 2024. https://www.nccn.org

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