Characteristics, Types, and Therapeutic Options of Myelodysplastic Syndrome

The myelodysplastic syndrome (MDS) is a condition characterized by abnormalities in the hematopoietic system, primarily marked by the immaturity of blood cells or a decrease in their numbers. This syndrome primarily affects the elderly population, but it can also occur in younger individuals. Understanding the diagnosis and treatment of MDS is crucial for patients, as the disease can have long-term consequences for quality of life and survival rates.

Development of Myelodysplastic Syndromes

Myelodysplastic syndromes develop in situations where the bone marrow fails to produce an adequate quantity and quality of blood cells. In MDS, immature or abnormal blood cells are formed, which die off in the bone marrow or bloodstream, leading to a decrease in the body’s blood cell levels. As a result, patients may face various problems such as anemia, infections, and frequent bleeding.

Myelodysplastic syndromes can be categorized into two main groups based on their causes. The first group consists of syndromes that arise from unknown origins. These are generally easier to treat than the second group, which develops as a consequence of chemicals or radiation, such as after cancer treatments or certain occupations. Treatment of such cases is often more complicated, as addressing the underlying causes may also be necessary.

Symptoms of Myelodysplastic Syndrome

In the early stages of myelodysplastic syndrome, symptoms are often not noticeable. As the disease progresses, the complaints depend on which blood cells’ production is affected and to what extent. Red and white blood cells, as well as platelets formed in the bone marrow, do not develop properly, leading to cytopenia. There are three forms of cytopenia: anemia, neutropenia, and thrombocytopenia.

Anemia, resulting from a low number of red blood cells, can cause fatigue, pallor, and shortness of breath. Neutropenia is associated with a reduced number of white blood cells, leading to decreased resistance to infections. This condition is characterized by frequent, hard-to-heal infections, such as skin infections or urinary tract infections. Thrombocytopenia is related to a low number of platelets, which can lead to bleeding and clotting disorders.

These symptoms can significantly impact patients’ quality of life, and it is important for them to consult a doctor when symptoms arise.

Types of Myelodysplastic Syndromes

There are several variants of myelodysplastic syndrome, depending on which blood cells’ development is impaired and what immature cells enter the bloodstream. The World Health Organization (WHO) has classified these syndromes into various subcategories. The most common forms include refractory anemia, refractory cytopenia, and refractory anemia with excess blasts.

Refractory anemia with ringed sideroblasts is associated with a decrease in the number of red blood cells, while refractory cytopenia shows dysplasia across multiple lineages. Refractory anemia with excess blasts, which contains an increased number of immature blood cells, has the worst prognosis, as the disease can progress aggressively.

The 5q minus syndrome is a specific chromosomal abnormality that also falls under myelodysplastic syndromes and requires special treatment. All these types necessitate different treatment approaches, further emphasizing the importance of diagnosis.

When to See a Doctor?

Myelodysplastic syndrome can lead to serious health issues, so it is important for patients to see a doctor immediately when symptoms appear. The first step in diagnosis is a blood test, based on which the doctor may recommend further investigations, such as a bone marrow analysis if the number or quality of blood cells deviates from normal.

If the cause of the disease is unknown, chromosomal testing may also be performed. The course of further examinations depends on the patient’s overall condition and any accompanying diseases. Early diagnosis and treatment of myelodysplastic syndrome greatly influence patients’ quality of life and survival chances.

Treatment of Myelodysplastic Syndrome

The treatment of myelodysplastic syndromes depends on the severity of the disease, the patient’s age, and any existing comorbidities. The doctor can choose from several treatment options, which will be selected based on the symptoms and the progression of the disease.

Symptomatic treatment aims to restore the number of blood cells, which can be achieved through blood transfusions or specific replacement of missing blood cells. Granulocyte colony-stimulating factors may be used to increase the number of white blood cells, while thrombopoietin analogs are utilized to enhance platelet production. Chemotherapy may also be considered, especially in aggressive cases, but this can come with significant side effects.

New treatment methods for myelodysplastic syndrome, such as azacitidine or decitabine, also offer options for patients if traditional therapies prove ineffective. Peripheral stem cell or bone marrow transplantation is also a possibility, but this solution is only available with a suitable donor and proper preparations.

Myelodysplastic syndrome is thus a complex disease that encompasses a variety of treatment options. The most important aspect is that patients and their doctors collaborate to select the most appropriate therapy, taking into account the unique characteristics of the disease.