Myelodysplastic syndrome

Introduction

Myelodysplastic syndrome (MDS), or myelodysplasia, represents a group of diverse bone marrow disorders characterized by ineffective hematopoiesis, leading to blood cell abnormalities and various health complications. This article provides an in-depth look at MDS, covering its types, causes, symptoms, diagnosis, treatment options, and potential outcomes.

Myelodysplasia is a group of diseases united by a common mechanism of development – a disorder of the myeloid branch of hematopoiesis. This branch is responsible for producing several immune cells: neutrophils, eosinophils, basophils, and monocytes. Also, in the process of disease development, the formation of erythrocytes (red blood cells) and platelets (plates that take part in blood clotting) suffers. Depending on the prevalence of one or another aspect of the pathological process, the patient faces different symptoms: excessive bleeding, anemia, decreased immunity, etc. Myelodysplastic syndrome is diagnosed and treated by oncologists and hematologists.

About the disease

The risk of developing myelodysplastic syndrome increases with age. Hematologists note that in 4 out of 5 cases, the pathology occurs in patients over 60 years of age, with men slightly more often than women. Pathology can both be asymptomatic and cause severe disorders of the entire body. In addition, it significantly increases the risk of leukemia.

Classification

Classification of myelodysplastic syndrome is based on changes in the cellular composition of the blood and bone marrow. The following types of pathology are distinguished:

Refractory anemia;
Refractory anemia with ringed sideroblasts;
Refractory cytopenia with multilineage dysplasia;
Refractory anemia with blast excess type 1 and type 2;
Myelodysplastic syndrome associated with 5q deletion;
Unclassifiable myelodysplastic syndrome.

Accurate determination of the type of pathology makes it possible to select the appropriate therapy and determine the prognosis.

Symptoms of myelodysplasia

The predominant signs of myelodysplastic syndrome depend on the changes in the blood test and the course of the disease. The pathology does not manifest itself in a mild form and is detected only when performing a general blood test. With a significant deficiency of specific cells, the patient may complain of the following problems:

anemia: accompanied by weakness, shortness of breath with minimal physical activity, frequent dizziness, fainting, pale skin;
blood clotting disorders: associated with a lack of platelets, a person complains of frequent bleeding from the nose and gums, bruising, and spot bleeding on the skin; women have increased duration and intensity of menstruation;
decrease in immunity: lack of specific fractions of leukocytes is accompanied by an increase in the frequency and severity of acute respiratory viral infections, frequent inflammation of mucous membranes and skin, increasing the risk of pneumonia, sinusitis, sepsis, and other inflammatory diseases.

One of the classic symptoms of myelodysplastic syndrome is an enlargement of the lymph nodes, liver, and spleen.

Risk Factors

While the exact cause of MDS remains unclear, several factors are associated with an increased risk:

Age: Most common in people over 60.
Gender: Slightly more prevalent in men.
Prior chemotherapy or radiation therapy.
Exposure to certain chemicals, like tobacco, pesticides, and benzene.
Genetic factors: Some inherited conditions can increase the risk.

Causes of myelodysplastic syndrome

In most cases, the exact cause of myelodysplasia cannot be determined. A connection between the risk of the disease and unfavorable environmental conditions, chronic intoxication, increased radiation background, smoking, as well as some hereditary pathologies has been revealed.

There is also a secondary type of disease that develops against the background of aggressive chemotherapy or radiation treatment. In this case, the pathology can be detected at any age. It is characterized by a more aggressive course and resistance to treatment.

Diagnosis

Diagnosis of myelodysplastic syndrome is based on studying blood and bone marrow samples. If the patient presents complaints that may indicate the development of pathology, performing a general blood test with an expanded leukocyte formula is mandatory. As a rule, the samples reveal anemia, a lack of leukocytes or platelets. Bone marrow puncture allows you to identify characteristic changes indicating a violation of the normal process of hematopoiesis.

In addition to these samples, additional tests are prescribed to assess the function of organs and tissues and rule out other diseases with similar symptoms (leukemia, aplastic anemia, vitamin B12 deficiency, etc.).
Diagnosing MDS involves several more steps:

Complete Blood Count (CBC): To check the levels of different blood cells.
Bone Marrow Biopsy and Aspiration: To examine the bone marrow cells.
Cytogenetic Analysis: To detect chromosomal abnormalities.
Molecular Genetic Testing: To identify specific gene mutations.

Treatment of myelodysplastic syndrome

Treatment tactics for myelodysplasia depend on the results of blood tests, bone marrow puncture, and the severity of symptoms. As a rule, doctors use a combined approach, including:

drugs to suppress immunity (block the reproduction of pathological cells);
various types of chemotherapy;
bone marrow transplant;
growth factor therapy: To stimulate blood cell production;
hypomethylating agents: Like azacitidine and decitabine, used in certain higher-risk MDS;
allogeneic stem cell transplantation: The only potential cure, suitable for younger patients with high-risk MDS.
symptomatic treatment: transfusion of blood and its components, managing infectious complications, and normalizing the blood coagulation system.

The selection of specific techniques and medications is done on an individual basis.

All these types of treatment are provided in 570 hospitals worldwide (https://doctor.global/results/diseases/myelodysplastic-syndrome-mds). For example, stem cell transplant is done in 30 clinics across Germany (https://doctor.global/results/europe/germany/all-cities/all-specializations/procedures/stem-cell-transplant-peripheral-blood).

Prevention

There are no specific measures for the prevention of myelodysplasia. It is recommended to avoid intoxication and excessive exposure to ionizing radiation, reduce smoking, or completely give it up. It is also necessary to undergo regular screening examinations, including a general blood test, to detect adverse changes in time.

Rehabilitation

Patients with myelodysplasia should be regularly seen by a hematologist, even with a long and stable remission. Regular blood tests will help keep the condition under control and promptly respond to any changes.

Outcomes and Prognosis

The prognosis of MDS varies widely. Some patients may live with mild symptoms for many years, while others may experience rapid progression to acute myeloid leukemia. Factors influencing prognosis include age, overall health, blood cell counts, and specific genetic changes in the marrow cells.

Living with Myelodysplastic Syndrome

Managing MDS involves regular monitoring and treatment to manage symptoms and prevent complications. Lifestyle adjustments, such as maintaining a healthy diet, getting regular exercise, and avoiding infections, are important. Emotional and psychological support is also crucial, as living with a chronic illness can be challenging.

Conclusion

Myelodysplastic Syndrome is a complex and varied group of bone marrow disorders that require careful diagnosis and management. Advances in medical science have led to a better understanding of MDS and more effective treatments, improving the quality of life for many patients. Ongoing research and clinical trials continue to explore new therapeutic options, offering hope for even better outcomes in the future.