Erythremia is a type of blood disease characterized by proliferation (proliferation) of red blood cells and a marked increase in the number of other cells (white blood cells, platelets). It is a chronic, often benign, disease that is quite rare. However, degeneration of benign leukemia into malignant is possible.
Erythremia is a disease that affects about 4 people out of 100 million people a year. It does not depend on gender, but is usually diagnosed in older and older people. Although cases of the disease are recorded at a younger age, they are often women.
Erythremia (code ICD-10 - C94.1) has a chronic course.
Blood cells and the mechanism of the disease
The mechanism of erythremia develops as follows.
Red blood cells are red blood cells, the main function of which is the transfer of oxygen to all cells of our body. They are produced in the bone marrow, spleen and liver. The bone marrow is located in the tubular bones, vertebrae, ribs, skull bones and sternum. For 96%, red blood cells are filled with hemoglobin, which performs the respiratory function. Red shade gives them iron. Red blood cells are formed using a stem cell. Their distinctive ability is the ability to divide (multiply), transforming into any other cell.
In the bones there is also yellow bone marrow, which is represented by adipose tissue. He begins to produce blood elements only in extreme conditions, when other sources of hematopoiesis do not perform their functions.
Erythremia (ICD-10 - the international classification of diseases in which this disease is assigned code C 94.1) is a disease whose pathogenesis has not yet been studied. For reasons that are still not fully understood by doctors, the body begins to intensively produce red blood cells that no longer fit in the bloodstream, blood viscosity increases, and blood clots begin to form. Over time, hypoxia (oxygen starvation) increases. Cells do not receive proper nutrition, a failure occurs in the general system of the body.
Some interesting facts about erythremia
- Erythremia is the most benign disease of all leukemia. That is, it behaves passively for a long time and leads to complications late enough.
- She may be asymptomatic and not report about herself for many years.
- Despite the increased platelet count, patients are prone to heavy bleeding.
- Erythremia has a family predisposition, therefore, if a family has a patient, the risk of its occurrence in one of the relatives increases.
Causes of Erythremia
Like other types of leukemia, erythremia is still not fully understood, and the causes of its appearance have not been identified. However, the factors that have its appearance are announced:
- Genetic predisposition.
- Toxic substances ingested.
- Ionizing radiation.
Genetic predisposition
At present, it is not known which gene mutations cause the appearance of erythremia, but it has been established that in the family the disease is often repeated in the next generations. The likelihood of developing the disease is significantly increased if a person suffers:
- Down syndrome (violation of the shape of the face and neck, developmental delay);
- Klinefelter's syndrome (disproportionate figure and possible developmental delay);
- Bloom's syndrome (low growth, pigmentation on the face and its disproportionate development, predisposition to cancer);
- Marfan syndrome (disorders of the development of connective tissue).
The predisposition to erythremia is explained by the fact that the genetic cellular apparatus (including the blood apparatus) is unstable, so a person becomes susceptible to external negative effects - toxins, radiation.
Radiation
Even x-rays and gamma rays are partially absorbed by the body, affecting genetic cells. They can die or mutate.
However, the most powerful radiation is received by people who treat cancer with chemotherapy, as well as those who were in the midst of explosions in power plants or atomic bombs.
Toxic substances
When ingested, they are capable of causing a mutation of genetic cells. These substances are called chemical mutagens. After numerous studies, scientists found that patients with erythremia contacted with these substances before the development of the disease. Such substances include:
- benzene (found in gasoline and many chemical solvents);
- antibacterial drugs (in particular, "Levomycetin");
- cytostatic drugs (antitumor).
The stages of erythremia and their symptoms
Erythremia of the stage has the following: initial, expanded and terminal. Each of them has its own symptoms. The initial stage can last for decades without showing any serious symptoms. Patients usually attribute minor symptoms to other, less serious diseases. After all, even doctors often do not pay due attention to non-ideal blood tests.
If initial erythremia occurs, blood tests have moderate abnormalities.
The initial stage is also characterized by rapid fatigue, dizziness, tinnitus. The patient does not sleep well, feels cold in the limbs, swelling of the arms and legs. There is a decrease in mental performance. No external manifestations of the disease yet. Headache is not considered a specific symptom of the disease, but it does occur at the initial stage due to poor blood circulation in the brain. For the same reason, vision, attention and quickness are reduced.
With a diagnosis of erythremia, the symptoms of the disease in the second stage have their own characteristics - bleeding gums, small hematomas become noticeable. Dark spots (symptoms of thrombosis) and even trophic ulcers may appear on the lower leg. The organs in which the red blood cells form are enlarged - the spleen and liver. Due to the development of the disease, the lymph nodes swell.
The second stage of erythremia can last about 10 years. Weight decreases markedly. The skin acquires a cherry tone (most often arms and legs), a soft palate changes color, and a hard palate retains its previous color. The patient is concerned about skin itching, which intensifies after bathing in warm or hot water. Swollen veins from an excess of blood become noticeable on the body, especially in the neck. The eyes seem to be filled with blood, because erythremia, whose symptoms are quite obvious in the second stage, contributes to the flow of blood to the vessels of the eyes.
Due to poor circulation in the capillaries, pain and burning in the fingers and toes are manifested. In advanced cases, cyatonic spots on them become noticeable.
There are bone and epigastric pains. Joint pains of a gouty nature are associated with an excess of uric acid. In general, kidney function is impaired, pyelonephritis is often diagnosed and urate stones in the kidneys are detected.
The nervous system suffers. The patient is nervous, his mood is unstable, tearful and often changes.
Blood viscosity increases, which entails the appearance of blood clots in a variety of vascular sites. There is also a risk of developing varicose veins.
Attention! Patients can also suffer from hypertension and the opening of ulcers in the duodenum. This is due to a decrease in the body's defenses and an increase in the number of Helicobacter pylori - it is this bacterium that causes an ulcer.
The third stage of erythremia is characterized by pallor of the skin, frequent fainting, weakness and lethargy. There are prolonged bleeding during minimal injuries, aplastic anemia due to a decrease in hemoglobin in the blood.
The third stage of erythremia: symptoms and complications
Erythremia is a blood disease that becomes aggressive in the third stage. At this stage, bone marrow cells undergo fibrosis. He can no longer produce red blood cells, so the norms of blood cells are falling, sometimes to critical levels. Foci of softening appear in the brain, liver fibrosis begins. In the gall bladder is a thick, viscous bile and pigment stones. The consequence of this is cirrhosis of the liver and blockage of blood vessels.
Previously, it was increased thrombosis that caused the death of patients with erythremia. The walls of blood vessels undergo changes, there is blockage of veins in the vessels of the brain, spleen, heart and legs. There arises obliterating endarteritis - blockage of the vessels of the legs with the risk of their complete narrowing.
The kidneys are affected. Due to the growth of uric acid, patients suffer from gouty joint pain.
Attention! With erythremia, the legs and arms often change color. The patient is prone to bronchitis and colds.
Course of the disease
Erythremia is a slow disease. The disease comes into its own slowly, its onset is progressive and is inconspicuous. Patients sometimes live for decades, not paying attention to minor symptoms. However, in more serious cases due to blood clots, death can occur within 4-5 years.
Along with erythremia, the spleen increases. Allocate a form with cirrhosis and damage to the diencephalon. During the illness, allergic and infectious complications may be involved, sometimes patients cannot tolerate certain groups of drugs, suffer from urticaria and other skin diseases. The course of the disease is complicated by concomitant conditions, because the diagnosis is usually made by the elderly.
Post-erythremic myelofibrosis is the degeneration of a disease from a benign course to a malignant one. The condition is natural in patients who have survived to this period. In this case, doctors admit that erythremia acquired a tumor character.
It is extremely important to correctly diagnose erythremia and prescribe appropriate treatment. Diagnostics includes a number of studies.
Erythremia blood test
In the diagnosis of erythremia, a blood test, the performance of which is very important for the diagnosis, is done first. First of all, this is a general blood test. It is deviations from the norm in it that become the first alarm bell. The number of red blood cells is increased. Initially, it is uncritical, but with the development of the disease, it increases more and more, and at the last stage it falls. Normally, the level of red blood cells in women is from 3.5 to 4.7, and in men from 4 to 5.
If erythremia is diagnosed, a blood test whose indicators indicate an increase in red blood cells also indicates a corresponding increase in hemoglobin. Hematocrit, indicating the ability of blood to carry oxygen, is increased to 60-80%. The color indicator is not changed, but in the third stage it can be anything - normal, increased or decreased. Platelets and white blood cells are elevated. White blood cells grow several times, and sometimes more. The production of eosinophils (sometimes together with basophils) is enhanced. Platelets are seriously elevated. The erythrocyte sedimentation rate is not higher than 2 mm / hour.
Alas, the general blood test, although important in the initial diagnosis, is uninformative, and only on its basis the diagnosis is not made.
Other studies with erythremia
- Blood chemistry. Its main goal is to determine the amount of iron in the blood and the level of liver samples - AST and ALT. They are released from the liver by the destruction of its cells. Determination of the amount of bilirubin indicates the severity of the destruction of red blood cells.
- Bone marrow puncture The analysis is taken using a needle that is inserted into the skin, in the periosteum. The method indicates the condition of hematopoietic cells in the bone marrow. The study indicates the number of cells in the bone marrow, the presence of cancer cells and fibrosis (proliferation of connective tissue).
- With a diagnosis of chronic erythremia, laboratory markers and abdominal ultrasound are also made. Ultrasound reveals an overflow of organs with blood, an increase in the liver and spleen, as well as foci of fibrosis in them.
- Dopplerography indicates the speed of blood flow and helps detect blood clots.
Erythremia treatment
It should be noted that erythremia often progresses slowly and has a benign course. First of all, doctors advise to change your lifestyle - to spend more time in the fresh air, walk, get positive emotions (endorphin therapy sometimes achieves amazing results). Products that contain large amounts of iron and vitamin C should be excluded.
At the first stage of the disease, the main goal in the diagnosis of erythremia is to lower blood counts to normal: hemoglobin - to 150-160, and hematocrit - to 45-46. It is also important to nullify the complications caused by the disease - circulatory disorders, pain in the fingers, etc.
Bloodletting helps to normalize the hematocrit with hemoglobin, which in this case is still used today. However, this procedure is done as part of emergency care, because it stimulates the work of bone marrow and the function of thrombopoiesis (the process of platelet formation). There is also a procedure called erythrocytapheresis, which consists in cleansing the blood of red blood cells. In this case, the blood plasma remains.
Drug treatment
Cytostatics are antitumor drugs that are used for erythremia complications - ulcers, thromboses, and circulatory disorders of the brain that occur in the second stage of the disease. Mielosan, Busulfan, hydroxyurea, Imifos, radioactive phosphorus. The latter is considered effective due to the fact that it accumulates in the bones and inhibits the function of the brain.
Glucocorticosteroids are prescribed for hemolytic anemia of autoimmune origin. Especially popular is Prednisolone. If the treatment does not give appropriate results, an operation to remove the spleen is prescribed.
To avoid iron deficiency, iron-containing preparations can be prescribed - "Hemofer", "Totem", "Sorbifer".
Also, as necessary, the following groups of drugs are prescribed:
- Antihistamines.
- Lowering blood pressure.
- Anticoagulants (blood thinners).
- Hepatoprotectors.
Erythremia, often treated in a hospital, is a serious illness that causes many complications. It is important to identify it as soon as possible and begin therapy.