Myelodysplastic syndrome refers to a group of hematological pathologies that are caused by a malfunction in the production of one or more blood cells, such as red blood cells, platelets or white blood cells in the bone marrow. Let us consider this disease in detail, find out its main causes, symptoms and find out what the treatment is.
Description of the disease
Myelodysplastic syndrome involves a fairly wide range of pathologies, uniting a single pathogenetic mechanism, which consists in a combination of dysplastic changes in cytopenia and bone marrow in the circulating blood. Each of the pathologies accompanied by the appearance of this syndrome causes an increased risk of acute myeloid leukemia.
Recently, such a phenomenon as myelodysplastic syndrome (refractory anemia) has received a huge amount of scientific work, since the actual frequencythe incidence of this disease has increased significantly, and the generally accepted effective therapy has not yet been developed. In addition, experts note an increase in the incidence of the primary form of pathology, which can affect people at a young age, which can be explained by a significant deterioration in the environmental situation in the modern world.
It should be noted that the main risk group, in which the development of myelodysplastic syndrome is most likely, is mainly elderly patients. Among children, it is perhaps the exception to the rule, since such an early detection of such a condition is extremely difficult. Next, consider the main reasons for the development of this pathology.
Main reasons
Most examples of the syndrome can be categorized as an idiopathic etiopathogenetic form, in which it is not possible to accurately determine the underlying cause of its development. The secondary form of myelodysplastic syndrome occurs exclusively in patients with an oncological profile, and the debut of its formation occurs, as a rule, in the period following the use of chemotherapy. In this category of patients, the syndrome proceeds extremely aggressively, in addition, it is particularly resistant to drug therapy. Drugs used in the treatment of oncological pathologies, for example, Cyclophosphamide with Topotecan, have a damaging effect on the genome, thereby provoking the development of myelodysplastic syndrome (reflex anemia).
There isa fairly wide range of the main causes of risk, eliminating which, it will be possible to avoid the formation of pathology. These include smoking with exposure to ionizing radiation, benzene vapor.
Most oncologists are of the opinion that this syndrome serves as the main background for the development of an acute form of leukemia. Refractory anemia is the most common form of this disease and many experts in practice identify these concepts. The main difference between refractory anemia and the standard classical variant of lowering the concentration of hemoglobin in the blood is that against the background of a syndrome with an excess of blasts, a large number of so-called blast cells can accumulate in the patient's bone marrow, which make up to thirty percent of the total cellular composition.
In the development of the pathogenesis of myelodysplastic syndrome, the efficiency of cell production in the bone marrow is of great importance. As a result of organic, morphological changes in the bone marrow, compensatory mechanisms of the extramedullary form of hematopoiesis may develop in the body of patients. A similar phenomenon is accompanied in addition by hepatosplenomegaly.
The pathogenetic basis of secondary myelodysplastic syndrome consists of impaired proliferation, maturation of blood cells within the bone marrow, resulting in the formation of a significant number of blast bodies that have absolutely all the signs of malignancy.
Risk factors
Kmajor risk factors for the syndrome include:
- Belonging to the male gender.
- Having white skin color.
- The patient is over sixty.
- Pre-disease chemotherapy along with radiation.
- Influence of certain chemicals. An example is tobacco smoke along with pesticides, solvents.
- Exposure to the body of various heavy metals, such as mercury with lead.
Next, we will find out how this disease can manifest itself and what are its main symptoms.
What are the main manifestations of the syndrome?
Probable manifestations of myelodysplastic syndrome with an excess of blasts may be, first of all, the appearance of weakness and shortness of breath. In the early stages of the disease, this syndrome often does not manifest itself clinically. Sometimes it happens that it is diagnosed by chance during a routine laboratory blood test. Similar symptoms may be due to other diseases. In the event that a person discovers any of the following signs, he should immediately consult a doctor:
- Shortness of breath.
- Developing weakness along with feeling tired.
- Appearance of pale skin color.
- Bruise formation from even minor bruises along with increased bleeding.
- Seeing petechiae - flat, pinpoint bruises under the skin the size of a pinhead.
- The appearance of fever or frequent infectionsdiseases.
Myelodysplastic syndrome symptoms
The clinical manifestation of the syndrome directly depends on the degree of myelopoiesis involvement. In this regard, at the initial stage of the pathology, patients observe an asymptomatic period, which can last quite a long time. In situations where myelodysplastic syndrome in patients occurs due to a predominant symptom complex of an anemic nature, patients experience increased weakness with severe pallor of visible skin, and they also have no appetite.
The presence of an increased predisposition to diseases of an infectious nature indicates the development of neutropenia. In addition, this group of patients has an increased risk of developing inflammatory complications. True, the thrombocytopenic component of the syndrome, which can manifest itself in the appearance of a hemorrhagic symptom complex in the form of increased bleeding, is the most severe factor influencing the well-being of patients. There may also be frequent episodes of epistaxis with the development of petechial elements of rashes on the skin.
Qualitative diagnosis of myelodysplastic syndrome (refractory anemia) with an excess of blasts should include an assessment of the intensity of clinical manifestations, as well as changes in indicators in the cellular composition of not only peripheral blood, but also bone marrow aspirate. In case of detection of such signs as refractory anemia, leukocytopenia or thrombocytopenia, as well as in the combination of all these disorders inolder patients should be presumed to have the syndrome.
Refractory anemia is characterized by a combination with anisocytosis, in addition, with macrocytosis, which can manifest itself in an increase in the average cell volume of the erythrocyte series. It is important to note that thrombocytopenia against the background of myelodysplastic syndrome most often does not reach a critical value, however, it may be accompanied by a change in the size of platelet cells. The latter will occur in the form of a decrease in their granularity. It is not at all necessary to observe a decrease in the leukocyte count. The most specific criterion is a change in leukocyte plasma granularity with the presence of pseudo-Pelger cells. The presence of an increase in the concentration of monocytic blood cells will testify in favor of the formation of chronic leukemia of the myelomonocytic type.
A high-precision diagnostic technique, which has almost one hundred percent reliability, is immunophenotyping along with cytochemical analysis of bone marrow aspirate, which allows you to determine specific enzymes. It should be noted that such enzymes are characteristic only of blast cells.
Let's consider the classification of myelodysplastic syndrome.
Disease classification
In modern medicine, the following types of syndrome are distinguished:
- Development of refractory anemia. This form of the disease can persist for more than six months. In this case, in the analysis of the patient's blood, blasts willbe absent or occur in a single order. In the bone marrow, as a rule, erythroid dysplasia is observed.
- Development of refractory anemia with sideroblasts. This form of pathology can also persist for more than six months. There will be no blasts in the patient's blood test. There is also erythroid dysplasia in the bone marrow.
- Development of refractory cytopenia with multilinear dysplasia. In the patient's blood test, Auer bodies are usually absent. As for blasts, they are also absent or occur in isolated cases. Pancytopenia may be seen with an increase in the number of monocytes. Within the bone marrow, dysplastic changes will be less than ten percent, Auer bodies are absent.
- Development of refractory anemia with a significant excess of blasts-1. There are no Auer bodies in the patient's blood, and blasts make up more than five percent. In parallel, cytopenia is observed with an increase in the number of monocytes. In this case, dysplasia of one or several cell lines will be observed in the bone marrow, Auer bodies are absent.
- Development of refractory anemia with an excess of blasts-2. In the patient's blood, an increase in the total number of monocytes is observed, and cytopenia is also present. Blasts make up to nineteen percent; Auer bodies can be detected. In the bone marrow, as a rule, there is dysplasia of one or several cell lines at once.
- Formation of unclassifiable myelodysplastic syndrome. Cytopenia is observed in the patient's blood, and blasts in theirthere are no queues or they occur in a single order. Auer bodies are absent. Within the bone marrow, dysplasia of one megakaryocytic lineage may be observed.
- Development of myelodysplastic syndrome associated with an isolated deletion. Anemia will be observed in the blood test, and blasts will make up more than five percent, thrombocytosis is not excluded.
Diagnosis
The diagnosis of the disease is made based on laboratory data. As part of the study, the following procedures are assigned to the patient:
- Peripheral blood test.
- Bone marrow biopsy followed by cytology.
- Passing a cytochemical, cytogenetic test.
As part of the analysis of peripheral blood in people suffering from pathology, as a rule, pancytopenia is detected, less often one-line cytopenia can be detected. Among ninety percent of patients, doctors observe normocytic or macrocytic anemia. Sixty percent of patients have neutropenia with leukopenia. Among other things, in most patients, doctors note the presence of thrombocytopenia. What else is the diagnosis of myelodysplastic syndrome?
As part of a bone marrow examination, the total number of cells is usually normal or elevated. Already at an early stage, doctors can detect signs of dyserythropoiesis. The content of blasts directly depends on the type of syndrome, so their number can be normal or increased. In the future, doctors observedysgranulocytopoiesis with dysmegakaryocytopoiesis. In some patients, signs of dysplasia within the bone marrow are very mild. As part of the cytogenetic study, almost all patients are diagnosed with a chromosomal disorder. Let us now consider how this syndrome is treated.
What is the treatment for myelodysplastic syndrome?
Treatment
Until recently, the treatment of myelodysplastic syndrome was only symptomatic. Today, specialists are developing new methods of therapy, however, the effective treatment of this group of diseases is still one of the most difficult problems of modern hematology. So far, the prognosis for myelodysplastic syndrome mainly depends on the characteristics of the course of the disease, the presence or absence of complications. Treatment is carried out by specialists in the field of oncology and hematology.
Decision-making regarding the choice of the main tactics of managing patients with this pathology directly depends on the severity of laboratory manifestations. The absence of symptoms of hemorrhagic syndrome, anemia, high risk of developing infectious complications is the basis for choosing expectant tactics in relation to the patient. In such a situation, only dynamic observation of the laboratory criterion of myelopoiesis is indicated.
The use of a therapeutic technique to correct this syndrome can only be justified in cases of severe clinical manifestations, as well as with an increased risk of transformation into leukemia. ATAs part of the treatment for myelodysplastic syndrome, as a rule, conservative and surgical methods are used.
The most widespread is the accompanying substitution treatment, which involves the introduction of blood components in the form of erythrocyte masses or thromboconcentrate intravenously. It should be taken into account that prolonged treatment with the use of a hemocomponent will inevitably provoke an oversaturation of the patient's body with iron, which in high concentrations only has a toxic effect on any organs and structures, which, of course, causes a violation of their functions. Given this feature, blood transfusion must be combined with the use of drugs that bind iron and contribute to its elimination. For example, the drug "Desferal" is used parenterally at 20 milligrams per kilogram of the patient's weight as part of chemotherapy for myelodysplastic syndrome.
Parenteral administration of substances such as erythropoietin and thrombopoietin is used for additional symptomatic therapy, which in no way affects the overall life expectancy of the patient. This, in turn, serves as a priority indicator of the effectiveness of the treatment of this syndrome. The presence in patients of such a phenomenon as refractory anemia, as one of the signs of pathology, is the rationale for the use of immunosuppressive treatment. To do this, prescribe "Lenalipomide" in a daily dose of 25 milligrams. The clinical guidelines for myelodysplastic syndrome do not end there.
The drug, whose effectiveness in preventing the development of leukemia against the background of the disease, has been proven more than once, is Azacitidine, its use is carried out according to a certain scheme. The first course of treatment is seven days, during which Azacitidine is administered intravenously to the patient at a daily dose of 75 milligrams. During the subsequent cycle of therapy, the daily dose is 100 milligrams. The multiplicity of course treatment is one week every month. It should be noted that the effect of the use of "Azacitidine" can be very intense. In this regard, each use of the drug must be preceded by a clinical study of a blood test.
Evaluation of hematological change should be carried out after administration of the drug. A categorical contraindication for the use of "Azacitidine" is the presence of severe organic pathologies of the liver and kidneys in patients, since the drugs of this pharmacological group are considered highly hepatotoxic. Given that the metabolic products within the framework of the breakdown of "Azacitidine" are eliminated through the excretory functions of the kidneys, conditions are formed for the toxic damage to these structures. In this regard, the use of the drug should be carried out strictly under the dynamic control of creatinine and urea values, these indicators are the main markers of renal failure.
Recommendations for myelodysplastic syndrome must be strictly followed.
Despite the positive effects of the use of medical adjustment, the only reasonable therapy thatallows in ninety-five percent of cases to achieve complete remission, allogeneic transplantation of stem hematopoietic cell substrates is advocated, however, the use of this method is practiced in a category of patients who are not older than fifty-five years. This factor, unfortunately, limits the use of this technique.
Such restrictions are due to the fact that in old age people are extremely difficult to tolerate chemotherapy, which must be carried out as part of the preparation of patients for transplantation. In addition, it should be taken into account that in ten percent of cases after transplantation, transplant rejection may develop, which will cause a life-threatening condition for the patient. Recently, stem cell transplantation has been quite successfully used, which are taken not from the bone marrow, but directly from the circulating peripheral blood.
Diet for myelodysplastic syndrome
In this case, it will be necessary to follow table number 15. Neutropenic patients are not recommended to follow any specific diet.
The diet of table number 15 has a balanced physiological and energy composition. A daily caloric intake of about 2,600-3,100 kcal is the consumption rate of a person who is not engaged in physical labor. Consumed food with a total weight of no more than three kg per day, liquid - 1.5-2.0 liters per day. Against the background of this diet, you need to take vitamin complexes, consume a lot of vegetables and fruits.
Table No. 15 was developed for practically he althy people without chronic gastrointestinal pathologies. In conditionshospital or sanatorium is used during the recovery period after an illness, or in order to smoothly transition from other diets to a normal diet.
Treatment of myelodysplastic syndrome with folk remedies will not be effective. Can be used as an aid.
Providing low-intensity treatment
Supportive care is an extremely important part of therapy for this disease and takes into account the advanced age of patients. Such treatment includes symptomatic therapy, which is aimed at maintaining normal levels of platelets, leukocytes and erythrocytes. This therapy is primarily designed to improve the quality of life of such patients and prolong its duration.
- RBC transfusion is carried out in order to stop the anemic syndrome. If multiple transfusions are required, there is a risk of iron overload, requiring chelation therapy.
- The platelet transfusion procedure for myelodysplastic syndrome with excess blasts is required to prevent bleeding. Usually this process does not lead to complications.
- There is a so-called hematopoietic growth factor, which involves stimulation with proteins that promote the development of blood cells, their use makes it possible to reduce the need for replacement transfusion. True, many patients with this syndrome do not respond to growth factors.
What is the disability group for myelodysplastic syndrome? It's getting famousafter a medical and social examination.
What is the prognosis for patients
Basically, the prognosis for a certain type of pathology directly depends on the pathogenetic variants of the course of this disease, as well as on the presence or absence of severe complications.
Recent scientific research in the field of hematology relates to the development of parameters for assessing the prognosis in myelodysplastic syndrome. In their daily practice, hematologists use the international IPSS classification. According to the latter, there are three main categories of risk: low, intermediate and high.
The main parameter in evaluating the prognosis in myelodysplastic syndrome is the percentage presence of blast cells in the bone marrow. The profile of the chromosomal abnormality with the actual severity of cytopenia is also assessed. The most favorable course of the disease is observed in patients who have zero points according to the IPSS classification. As for the average life expectancy in the presence of a high risk according to this classification, it is no more than six months.
When a diagnosis of myelodysplastic syndrome is made, the question immediately arises of which doctor will help. In the event of the presence or suspicion of the formation of a pathology, it is extremely important to immediately seek advice from specialists such as a hematologist and a blood transfusiologist. The consultation will also be provided by an immunologist with an oncologist.
