Myelodysplastic syndromes (MDS)

Sometimes a routine blood test reveals a persistent decrease in hemoglobin or platelets, and the usual causes are not confirmed. Myelodysplastic syndromes may be behind such changes.

Below, K+31 oncohematologists explain what MDS is, how it is detected, and the options available for modern MDS treatment.

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What are myelodysplastic syndromes?

What are myelodysplastic syndromes?

This is a group of bone marrow diseases that disrupt normal blood cell production. The bone marrow is functional, but produces defective cells, leading to the development of:

  • Pain
  • Vision loss
  • Tissue swelling

Myelodysplastic syndrome is a clonal blood disorder, meaning it is associated with changes in a single cell line.

Causes and risk factors for the development of MDS

The exact cause is often unknown. It involves the accumulation of genetic changes in bone marrow cells, and certain circumstances increase the likelihood of the disease.

Age-related changes in hematopoiesis

With age, bone marrow function becomes less stable. This is why myelodysplasia is more common in people over 60.

Exposure to chemicals and radiation

External factors play a significant role. Exposure to benzene and certain solvents, as well as previous radiation exposure, are also significant.

Secondary myelodysplastic syndromes

Sometimes the disease develops after previous treatment. These forms are associated with previous chemotherapy or radiation therapy for other tumors.

Symptoms of myelodysplastic syndromes

Symptoms of myelodysplastic syndromes

Manifestations are associated with a lack of adequate blood cells. The range of symptoms depends on which hematopoietic system is missing, so MDS symptoms vary from patient to patient.

Manifestations of anemia

A lack of red blood cells is the first symptom. Weakness, pallor, dizziness, and shortness of breath during exertion are typical symptoms of MDS.

Signs of decreased immunity

A deficiency of normal white blood cells weakens the body's defenses. As a result, colds, inflammation, and other infections become more frequent.

Bleeding and clotting disorders

Low platelet levels lead to increased bleeding. Frequent bruising, bleeding gums, and small hemorrhages on the skin are possible.

When is it necessary to consult an oncohematologist?

There are some complaints that require immediate attention. Schedule a consultation with an oncohematologist in the following cases:

  • Constant weakness and fatigue
  • Pale skin
  • Frequent infections
  • Increased bleeding
  • Unexplained bruising
  • Persistent changes in blood count

Even with minor abnormalities, do not self-diagnose – the cause is determined only after an examination.

When is it necessary to consult an oncohematologist?

Diagnostics of MDS

The examination combines blood tests and bone marrow examination. At our center, MDS diagnosis is carried out in stages:

  1. Consultation with an oncohematologist and examination
  2. General and biochemical blood test
  3. Bone marrow puncture and examination
  4. Cytogenetic study and molecular tests
  5. Risk group and prognosis assessment

This procedure allows not only to confirm the disease but also to determine its form.

Laboratory blood tests

They begin with a general blood test, which reveals cytopenia—a decrease in cell count. This test evaluates hemoglobin, leukocyte, and platelet levels.

Bone marrow examination

The key method is collecting bone marrow by puncture. Analysis of the material reveals cell dysplasia and the proportion of blast cells, confirming the diagnosis.

Cytogenetic and molecular genetic studies

Genetic analysis is used to clarify the nature of the disease. Cytogenetics and molecular diagnostics identify mutations and help assess the prognosis.

Assessment of disease prognosis

Based on all the data, the doctor assigns the patient to a specific risk group. This is done using international prognostic scales that take into account tests and genetic changes.

To illustrate the role of each method, we provide a summary table of diagnostics.

Method What it reveals Meaning
Complete blood count Blood cell changes Initial assessment
Bone marrow puncture Hematopoiesis disorder Diagnosis confirmation
Cytogenetics Genetic changes Prognosis assessment
Molecular testing Mutations Treatment tactics

Only a combination of these methods provides a complete and reliable picture.

"In our practice, early detection of myelodysplastic syndrome allows us to promptly select therapy and monitor the progression of the disease. Comprehensive diagnostics and an individualized approach help us make an informed decision for each patient."

— oncohematologist.

General information

Classification of myelodysplastic syndromes

The disease is heterogeneous and encompasses several variants. The prognosis and treatment options directly depend on the form.

Main forms of MDS

Several variants are distinguished depending on which hematopoietic lineages are affected and the number of blast cells in the bone marrow. They can be roughly divided as follows:

  • Forms with predominant anemia
  • Forms with damage to multiple hematopoietic lineages
  • Forms with excess blast cells
  • Variant with an isolated genetic defect (deletion 5q)

The exact variant is determined based on bone marrow examination and genetic testing.

Risk groups

For prognosis, patients are divided into risk groups. This division helps determine how aggressively to treat and which treatment method to choose.

Long-term monitoring

Even with a good result, monitoring is continued. This type of treatment monitoring allows for early detection of diminishing returns and the appropriate treatment plan.

Classification of myelodysplastic syndromes

Modern MDS treatment methods

Treatment tactics depend on the disease type, age, and risk group. There is no single treatment plan, and modern MDS treatment is selected individually.

Maintenance therapy

At low risk, the main goal is to maintain normal blood counts. This includes several measures:

  • Blood component transfusions as indicated
  • Hematopoietic drugs
  • Infection prevention and treatment
  • Iron level monitoring with frequent transfusions

This type of care improves well-being. Quality of life is also significantly improved, even when radical treatment is not required.

Drug therapy

At higher risk, drugs that target the tumor clone are used. They slow progression and help keep the disease under control.

Transfusion support

For severe anemia or platelet deficiency, transfusions are prescribed. Transfusions temporarily replenish the missing cells and relieve severe symptoms.

Targeted therapy, if indicated

For certain genetic changes, targeted treatment is possible. This therapy acts on a specific disease mechanism and is prescribed strictly according to indications.

Hematopoietic stem cell transplant

The only method capable of radically altering the course of the disease is stem cell transplantation. It is considered in some high-risk patients, taking into account their age and general condition.

Modern MDS treatment methods

Post-treatment monitoring

After treatment is selected, monitoring continues. Regular tests and examinations allow for monitoring the progress of the disease. This allows for timely adjustments to treatment. Therefore, follow-up monitoring is an essential part of care.

Post-treatment monitoring

Advantages of a specialized approach to MDS treatment

Specialized care provides patients with predictability and a full cycle of care in one place. In practice, this means:

  • Consultations with an oncologist-hematologist
  • Comprehensive diagnostics in one place
  • Modern laboratory and molecular genetic testing
  • Personalized treatment and monitoring plan
  • Second opinion based on examination results
  • Support at all stages of therapy
  • Reliance on international clinical guidelines

This approach helps make informed decisions and reduces patient anxiety.

Advantages of a specialized approach to MDS treatment

Answers to frequently asked questions from patients

We've compiled the most frequently asked questions from patients. The answers are general and do not replace an in-person consultation.

What is myelodysplastic syndrome?

This is a group of bone marrow diseases that disrupt blood cell production. The disease can be accompanied by anemia, decreased immunity, and increased bleeding.

What symptoms may indicate MDS?

Most often, this is weakness, rapid fatigue, shortness of breath during exertion, frequent infections, bruising and bleeding.

How is the disease diagnosed?

Diagnosis includes a complete blood count, bone marrow examination, cytogenetic and molecular genetic tests.

Can MDS be treated with modern methods?

Yes. Treatment depends on the disease's form, age, and risk group: supportive therapy, medications, targeted therapies, and stem cell transplants are used.
Conclusion

Timely consultation with a specialist if persistent changes in blood tests are observed is the key to disease control. Accurate diagnosis, risk group determination, and individualized treatment help keep MDS under observation and maintain the patient's quality of life.

List of sources

Category of Clinical Guidelines of the Ministry of Health of the Russian Federation — https://cr.minzdrav.gov.ru/

Russian Society of Clinical Oncology (RUSSCO) — https://rosoncoweb.ru

Association of Oncologists of Russia — https://oncology-association.ru

Federal Electronic Medical Library — https://femb.ru

CyberLeninka — publications on oncohematology — https://cyberleninka.ru

Scientific electronic library eLIBRARY — https://elibrary.ru

MSD Manual (Russian version) — https://www.msdmanuals.com/ru

PubMed (Russian-language reviews and materials with the ability to search for publications) — https://pubmed.ncbi.nlm.nih.gov

National Medical Research Knowledge Base of the Eurasian Association of Therapists — https://euat.ru

Encyclopedia and Reference Materials of the Russian Medical Association — https://www.rmj.ru

Continuous Medical Education Portal of the Ministry of Health of the Russian Federation — https://edu.rosminzdrav.ru

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