Blood diseases constitute a large and diverse group of syndromes that form when violations of the qualitative and quantitative composition of the blood. All of them are systematized based on the defeat of any component of the blood. Hematological diseases are divided into three main groups:
- pathologies characterized by a decrease in hemoglobin level;
- hemoblastoses;
- hemostasiopathies.
Refractory anemia is one of the varieties of anemia, characterized by a violation of the maturation of red sprout cells.
What is myelodysplastic syndrome?
A group of diseases and conditions with a disruption in the formation of red blood cells, monocytes, platelets, granulocytes in myeloid tissue (myeloid hematopoiesis) with a high probability of developing a tumor lesion of the hematopoietic system in medicine is called myelodysplastic syndrome (MDS).
The clinical signs in this case are the same as in anemia, a condition characterized by a decrease in the level of neutrophilic granulocytes in the blood and thrombocytopenia. The disease is more common in people after 60 years, and men are more susceptible to it than women. However, recently there has been a “rejuvenation" of the disease. Hematologists believe that the reason lies in the deterioration of the environmental situation.
One of the diseases of the myelodysplastic syndrome group is refractory anemia. This pathology, like all others combined by MDS, refers to hematological diseases characterized by cytopenia (a decrease in the level of a certain type of cells in the blood) and pathological changes in the bone marrow.
Classification of myelodysplastic syndrome
Some changes were made to the international classification of diseases, which also affected hematological diseases. The systematization is similar to that previously proposed by WHO, but differs from FAB in the number of options for determining diseases:
- D46.0 - refractory anemia without sideroblasts.
- D46.1 - RA with annular sideroblasts. Immature blood cells in the blood are not detected.
- D46.2 - refractory anemia with an excess of blasts 1. In the analysis of blood, cytopenia, excess of the level of monocytes, Auer bodies are absent.
- D46.3 - refractory anemia (RA) with many blasts with transformation.
- D46.4 - RA, unspecified
- D46.5 - refractory cytopenia with multilinear dysplasia.
- D46.6 - myelodysplastic syndrome associated with a 5q deletion.
- D46.7 - Other myelodysplastic syndromes.
- D46.9 - unspecified myelodysplastic syndrome.
Features of refractory anemia
Refractorius in Latin means "refractory", "intractable". The disease refers to hematological and is characterized by a violation of the development of the red blood cell in the blood produced by the bone marrow. In case of refractory anemia syndrome, the erythrocyte content in the blood, and then the rest of the cells, first decreases, the organ of the hematopoietic system responsible for hematopoiesis is affected.
The main danger of the pathology is that it does not respond to treatment based on the use of iron-containing drugs. This type of anemia is often almost asymptomatic and is detected in the diagnosis of other pathologies. The disease progresses rapidly and leads to the development of acute leukemia.
Refractory anemia with excess blasts
Based on statistical data, people with a similar diagnosis are about 1 015 000. The disease most often occurs in men 75-80 years old, and in women aged 73-79 years. Pathology is divided into two types:
- RAIB-1 - characterized by cytopenia, an increase in the number of monocytes in the blood. Rod-shaped red protein inclusions in the cytoplasm of monocytes (Auer bodies) are not detected. In the bone marrow there is dysplasia of one cell line, blasts (immature blood cells) of about 5-19%.
- RAIB with transformation - a blood test shows an increased content of monocytes, Auer bodies are detected. The blast content is about 30%. In the bone marrow, dysplasia of several cell lines is detected at once. A similar picture contributes to the development of acute myelogenous leukemia.
Mortality from this pathology is about 11%.
Causes of pathology
The exact causes of the disease have not yet been identified. Two types of syndrome are distinguished, and risk factors are identified for each of them.
Primary (ideopathic) is detected in almost 90% of cases. Risk factors:
- Smoking.
- Excessive radiation.
- Living in an unfavorable ecological zone.
- Regular inhalation of gasoline vapors, organic solvents, pesticides.
- Congenital neurofibromatosis of Recklinghausen (the development of tumors from nerve tissue).
- Fanconi's hereditary anemia.
- Down Syndrome.
Secondary type of refractory anemia (MDS) is observed in 20% of cases, can develop at any age. The main reasons for the development:
- Chemotherapy or radiotherapy.
- Long-term use of certain groups of drugs: cyclophosphates, anthracyclines, topoisomerase inhibitors, podophyllotoxins.
The secondary variant is characterized by high resistance to therapy and a high probability of the formation of acute leukemia and, as a result, an unfavorable prognosis.
What are the signs of determining the disease?
Often, the pathology develops without any symptoms, which prevents the start of treatment in the early stages and in mild forms. As a rule, severe refractory anemia is diagnosed with a planned examination of the patient.
But to detect the disease in the early stages is still possible. Its first signs have much in common with manifestations that occur with liver pathologies, autoimmune diseases, and any other anemia. These include:
- Paleness, transparency of the skin, especially on the face.
- Excessive thickening of the stratum corneum of the epidermis on the elbows and knees.
- The formation of hematomas that last a long time.
- Permanent cracks in the oral mucosa.
- Fragility of nails.
- Change in smell and taste: addiction to pungent odors, desire to eat earth, chalk.
- Fast fatiguability.
- Frequent acute respiratory viral infections with severe course.
If such symptoms are found, consult a doctor.
Clinical manifestations of a severe degree of pathology
The clinical picture of anemia consists of two phases: chronic hemodepression and severe (final) stage.
With hemodepression, the following manifestations are observed:
- A significant increase in temperature, fever.
- A sharp breakdown.
- General feeling unwell.
- Weight loss.
- Enlarged internal organs: spleen, liver.
- Enlarged and sore lymph nodes.
These conditions are protracted, with periods of remission.
Symptoms of severe refractory anemia (myelodysplastic syndrome) are the same as in acute leukemia. The disease develops rapidly. One of its features is the detection of blasts in a blood test. The disease is accompanied by the following symptoms:
- Hematomas, even with minor bruises.
- Bleeding gums.
- Gingivitis.
- Binocular displacement of the eyeball.
- Persistent repeated inflammatory processes in the nasopharynx.
- Suppuration of scratches, small wounds.
- Pain in the spine.
In elderly patients, secondary diseases occur, the cardiovascular system is more often affected. Patients experience pain when walking in the lower limbs.
Diagnostic measures
At the first suspicious symptoms, you must consult a doctor. The diagnosis of myelodysplastic syndrome or refractory anemia with an excess of blasts is made only after a series of laboratory tests. They include:
- Clinical analysis of peripheral blood.
- Cytological studies of bone marrow aspirate.
- Trepanobiopsy consists in taking biomaterial from bone marrow by piercing the tibia.
- Cytogenetic test. Analysis reveals chromosomal abnormalities, is mandatory.
Depending on the clinical picture of the disease, additional diagnostic measures may be prescribed:
- Ultrasound of the abdomen.
- Esophagogastroduodenoscopy of the gastrointestinal tract.
- Analysis for specific tumor markers.
Therapies
The choice of treatment for refractory anemia is due to the severity of clinical manifestations and the results of laboratory studies. The treatment regimens are quite complex and are determined by the doctor. Patients with few blasts are at low risk. They receive substitution and supportive care and can lead an almost normal lifestyle. The approximate treatment regimen is as follows:
- In stationary conditions, surveillance is carried out. The main objective: maintaining a normal level of hemoglobin and preventing the development of anemic syndrome. The patient is given a transfusion of an erythrocyte donor mass.
- In severe anemia, medications are prescribed that contribute to the restoration of iron-containing protein: Exidzhad, Desferol.
- To prevent immune aggression against bone marrow, “Lenalidomide” with antimonocytic globulin and “Cyclosporin” are used.
- When identifying infectious diseases, antibacterial drugs are prescribed depending on the pathogen and its resistance.
- If necessary, a bone marrow transplant is performed.
Forecasting
The prognosis of refractory anemia (myelodysplastic syndrome) depends on the clinical picture, the body's response to therapy, the timeliness of seeking medical help. The outcome of the disease is due to the severity of the deficiency of certain cells, the presence and profile of chromosomal abnormalities, the number of blasts and their tendency to develop in the blood and bone marrow.
Prevention
Due to the fact that the essence, circumstances and mechanisms of the development of pathology are not yet fully understood, it is almost impossible to name effective preventive methods. Doctors advise you to follow these health guidelines:
- Eat well balanced.
- Include foods high in iron in your diet.
- More often take walks in the fresh air.
- Refuse bad habits, in particular smoking.
- When working with pesticides or organic solvents, use protective equipment.
Refractory anemia is a dangerous hematological disease that turns into oncology. In order to avoid severe stages of the disease and serious consequences, it is necessary to regularly conduct a routine examination. If a pathology is detected, it is necessary to completely undergo a course of therapy, for many patients this has helped not only to improve, but also to prolong life.