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Myelodysplastic syndrome Symptoms and Treatment

What is it?

Myelodysplastic syndrome is a disease of the blood. This pathology causes a fall in the number of circulating blood cells. This syndrome is also called: myelodysplasia.

In a “healthy” organism, the bone marrow produces different types of blood cells:
– red blood cells, allowing the oxygen supply to the whole organism;
– white blood cells, allowing the body to fight against exogenous agents and thus avoid the risk of infection;
platelets, which allow the formation of blood clots and come into play in the coagulation process.

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In the case of patients with myelodysplastic syndrome, the bone marrow is no longer able to produce these red blood cells, white blood cells and platelets normally. Blood cells are produced abnormally causing their incomplete development. Under these conditions of development, the bone marrow contains a set of abnormal blood cells that are then distributed to the entire bloodstream.

This type of syndrome can either develop slowly or develop more aggressively.

There are several types of the disease:

  • refractory anemia, in this case, only the production of red blood cells is impacted;
  • refractory cytopenia, where all the cells (red blood cells, white blood cells and platelets) are impacted;
  • refractory anemia with excessive blasts, also affecting red blood cells, white blood cells and platelets and leading to an increased risk of developing acute leukemia.

Myelodysplastic syndrome can affect people of all ages. Nevertheless, the most commonly affected subjects are between 65 and 70 years old. Only one in five patients under the age of 50 would be affected by this syndrome.

Symptoms of Myelodysplastic syndrome

Most people with the disease have, first of all, mild to mild symptoms. These clinical manifestations are complicated later.

The symptoms of the disease are associated with the different types of blood cells impacted.
In case the red blood cells are impacted, the associated symptoms are:

  • fatigue
  • weaknesses;
  • breathing difficulties.

In the case where white blood cells are concerned, clinical manifestations result in:

  • an increased risk of infections related to the presence of pathogens (viruses, bacteria, parasites, etc.).

When the development of platelets is concerned, we generally notice:

  • more bleeding and the appearance of bruising without underlying reason.

Some forms of myelodysplastic syndrome are similar to clinical manifestations that develop more rapidly than others.

In addition, some patients may not have any characteristic symptoms. The diagnosis of the disease is therefore after the completion of a blood test, demonstrating an abnormally low level of circulating blood cells and their malformation.

The symptoms of the disease are directly associated with the type of the disease. Indeed, in the case of refractory anemia, the symptoms developed will be mainly fatigue, feelings of weakness and the possibility of breathing difficulties.

Some people with myelodysplastic syndrome may develop acute myeloid leukemia. It is a cancer of the white blood cells.

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The origins of the disease

The exact origin of myelodysplastic syndrome is, to date, not fully known.

However, a cause-and-effect relationship has been put forward regarding exposure to certain chemical compounds, such as benzene, and the development of pathology. This chemical, classified as carcinogenic to humans, is strongly found in the industry for the manufacture of plastics, rubber or in the petrochemical industry.

In rare cases, the development of this pathology may be associated with radiotherapy or even chemotherapy. These are two widely used means in the treatment of cancer.

Risk factors for Myelodysplastic syndrome

The risk factors for the disease are:
– exposure to certain chemicals, such as benzene;
– primary treatment with chemotherapy and / or radiotherapy.

Prevention and treatment of Myelodysplastic syndrome

Diagnosis of myelodysplastic syndrome begins with blood tests and bone marrow samples. These tests make it possible to determine the number of normal and abnormal blood cells.

The analysis of the bone marrow is effective under local anesthesia. A sample of it is usually extracted from the subject’s hip and analyzed under a microscope in the laboratory.

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The treatment of the disease depends directly on the type of the disease and the conditions of the individual.

The goal of treatment is to restore a normal level of circulating blood cells and their shape.

In the context where the patient presents a form of the disease at low risk of becoming cancer, the prescription of a particular treatment will not necessarily be effective but will require only regular monitoring through blood tests.

Treatments for more advanced forms of the disease are:

  • blood transfusion;
  • medicines to regulate iron in the blood, usually after the completion of a blood transfusion;
  • the injection of growth factors, such as erythropoietin or G-CSF, to boost the growth of blood cells and help the bone marrow produce blood cells;
  • antibiotics, in the treatment of infections caused by deficiency of white blood cells.

In addition, drugs such as anti-thymocyte immunoglobulin (ATG) or ciclosporin, allow the reduction of the immune system activity allowing the bone marrow to make blood cells.

For subjects at high risk of developing cancer, chemotherapy may be prescribed or a stem cell transplant.
Chemotherapy allows the destruction of immature blood cells by stopping their growth. It can be prescribed in oral form (tablets) or intravenously.
This treatment is often associated with:
– cytarabine;
– fludarabine;
– daunorubicin;
– clofarabine;
azacitidine.

Stem cell transplantation is used in case of severe form of the disease. In this context, stem cell transplantation is preferentially performed in young subjects.
This treatment is generally associated with chemotherapy and / or early radiation therapy. After the destruction of the blood cells affected by the syndrome, a healthy cell transplant can be effective.

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