Polycythemia vera: what it is, treatment, prognosis, symptoms, stages, signs. Prognosis for polycythemia vera Polycythemia vera

Polycythemia vera. What it is?

This is a blood disease that belongs to benign tumor diseases. The myelopoiesis precursor cell is primarily affected, which manifests itself in uncontrolled, unlimited division and growth of blood cells. As a result of this process, the number of red blood cells, platelets, and leukocytes in the peripheral blood sharply increases, which leads to an increase in blood viscosity and an increase in hematocrit.

The disease is more common in adults over 60 years of age, but can occur in children and even newborns. The childhood form of Vaquez disease is the most severe. Among full-term newborns, about 2–5% are affected by the disease; in premature infants, the incidence increases to 15%.

An increase in the number of red blood cells in the blood is called erythrocytosis, and is a characteristic sign of polycythemia. A distinction is made between true erythrocytosis (primary polycythemia), which occurs with Vaquez disease, and false erythrocytosis (or relative), which occurs when the amount of liquid part of the blood decreases due to burns, vomiting, diarrhea, and dehydration.

Secondary erythrocytosis is also isolated (this is the so-called secondary polycythemia), when an increase in the number of red blood cells is caused by a lack of oxygen in the tissues. Hypoxia stimulates the production of erythropoietin, which stimulates the growth of red blood cells. This type of pathology occurs in smokers, with lung diseases, in people located in the mountains at high altitudes or with hemoglobinopathies, as well as in cases of impaired production of erythropoietin, a hormone that controls the production of red blood cells.

Symptoms and manifestations of the disease

The clinical picture of the disease will depend on the stage, there are three in total.

Treatment and prognosis of polycythemia

Treatment of the disease is carried out only in the conditions of the hematology department under close monitoring of blood counts.

Bloodletting is a treatment method in which a portion of the patient’s blood (about 500 ml) is taken at intervals of 1 to 2 days to reduce the number of red blood cells and hemoglobin in it. Bloodletting is successful if red blood cells have decreased to 4.5 - 5.0 × 1012 / l, and hemoglobin - to 150 g / l. When the patient's body weight is up to 55 kg, erythrocytopheresis is used, when after blood collection, centrifugation is performed, the erythrocyte mass is separated from the plasma and the liquid part of the blood is returned to the patient.
Cytostatics (Myelosan, Imifos) are prescribed to suppress the growth of tumor cells.
Interferon is prescribed simultaneously with cytostatics and increases the body's immune properties.

Treatment of the disease with folk remedies is possible, but only when combined with basic medication methods. It is recommended to follow a diet that thins the blood and use lemon-garlic infusion. Compliance with the drinking regime is also very important. The amount of fluid you drink should be 50 ml/kg body weight per day.

The prognosis of the disease depends on at what stage the disease was detected. If this is the third stage, then the outcome of the disease will depend on what form of leukemia the erythrocytosis is transformed into. On average, patients live 10 to 15 years after being diagnosed with polycythemia.

Overproduction of red blood cells is most dramatic in polycythemia, but production of white blood cells and platelets is also increased in most cases

Polycythemia vera is a rare, chronic disease involving an overproduction of blood cells in the bone marrow (myeloproliferation).

Overproduction of red blood cells is most dramatic, but production of white blood cells and platelets is also increased in most cases. Excessive production of red blood cells in the bone marrow results in an abnormally high number of circulating red blood cells in the blood. Consequently, the blood thickens and increases in volume; this condition is called blood hyperviscosity.

Polycythemia is an increase in the number of red blood cells in the blood. In polycythemia, hemoglobin levels and the number of red blood cells (RBCs) are increased, and the hematocrit (the percentage of red blood cells to blood plasma) is also increased. An elevated red blood cell count can easily be detected by performing a complete blood count. A hemoglobin level greater than 16.5 g/dL in women and greater than 18.5 g/dL in men indicates polycythemia. In terms of hematocrit, values above 48 in women and above 52 in men indicate polycythemia.

The production of red blood cells (erythropoiesis) occurs in the bone marrow and is regulated by a series of specific steps. One of the important enzymes regulating this process is erythropoietin. Most erythropoietin is produced in the kidneys, and a smaller part is produced in the liver.

Polycythemia can be caused by internal problems in the production of red blood cells. It is called primary polycythemia. If polycythemia occurs due to another underlying medical problem, it is called secondary polycythemia. In most cases, polycythemia is secondary and caused by another disease. Primary polycythemia is relatively rare. About 1-5% of newborns may be diagnosed with polycythemia (neonatal polycythemia).

Primary causes of polycythemia

Polycythemia vera is associated with a genetic mutation in the JAK2 gene, which increases the sensitivity of bone marrow cells to erythropoietin. As a result, the production of red blood cells increases. Levels of other types of blood cells (white blood cells and platelets) are also often increased in this condition.

Primary familial and congenital polycythemia is a condition associated with a mutation in the Epor gene, which causes increased production of red blood cells in response to erythropoietin.

Secondary causes of polycythemia

Secondary polycythemia occurs due to high levels of circulating erythropoietin. The main causes of elevated erythropoietin are: chronic hypoxia (low oxygen levels in the blood for a long period of time), poor oxygen delivery due to abnormal red blood cell structure and tumors.

Some of the common conditions that can lead to elevated erythropoietin due to chronic hypoxia or poor oxygen supply include: 1) chronic obstructive pulmonary disease (COPD, emphysema, chronic bronchitis); 2) pulmonary hypertension; 3) hypoventilation syndrome; 4) congestive heart failure; 5) obstructive sleep apnea; 6) poor blood flow to the kidneys; 7) life at high altitudes.

2,3-BPG deficiency is a condition in which the hemoglobin molecule in red blood cells has an abnormal structure. In this state, hemoglobin has a higher affinity for oxygen and releases less oxygen to body tissues. This leads to more red blood cell production because the body perceives this abnormality as insufficient oxygen levels. The result is a higher number of circulating red blood cells.

Some tumors cause excess erythropoietin to be secreted, leading to polycythemia. Common erythropoietin-releasing tumors: liver cancer (hepatocellular carcinoma), kidney cancer (renal cell carcinoma), adrenal adenoma or adenocarcinoma, uterine cancer. Benign conditions such as kidney cysts and renal obstruction can also lead to increased secretion of erythropoietin.

Chronic exposure to carbon monoxide can lead to polycythemia. Hemoglobin has a higher affinity for carbon monoxide than oxygen. Therefore, when carbon monoxide molecules attach to hemoglobin, polycythemia can occur to compensate for poor oxygen delivery to existing hemoglobin molecules. A similar scenario can also occur with carbon dioxide due to long-term smoking.

Polycythemia neonatorum (neonatal polycythemia) is often caused by transfer of maternal blood from the placenta or blood transfusion. Long-term poor oxygen delivery to the fetus (intrauterine hypoxia) due to placental insufficiency can also lead to neonatal polycythemia.

Relative polycythemia

Relative polycythemia describes conditions in which the volume of red blood cells is high due to increased concentrations of red blood cells in the blood as a result of dehydration. In these situations (vomiting, diarrhea, excessive sweating), the number of red blood cells is within the normal range, but due to the loss of fluid affecting the blood plasma, the concentration of red blood cells is increased.

Polycythemia due to stress

Erythrocytosis due to stress is also known as pseudopolycythemia syndrome, which occurs in obese middle-aged men taking diuretics to treat hypertension. Often these same people are cigarette smokers.

Risk factors for polycythemia

The main risk factors for polycythemia are: chronic hypoxia; long-term cigarette smoking; family and genetic predisposition; life at high altitudes; long-term exposure to carbon monoxide (tunnel workers, garage attendants, residents of heavily polluted cities); Ashkenazi Jewish origin (possibly increased incidence of polycythemia due to genetic predisposition).

Symptoms of polycythemia

Symptoms of polycythemia can vary widely. Some people with polycythemia have no symptoms at all. In polycythemia intermediate, most symptoms are related to the underlying condition that is responsible for the polycythemia. Symptoms of polycythemia can be vague and quite general. Some of the important signs include: 1) weakness, 2) bleeding, blood clots (which can lead to heart attack, stroke, pulmonary embolism), 3) joint pain, 4) headache, 5) itching (also itching after taking shower or bath), 6) fatigue, 7) dizziness, 8) abdominal pain.

When to see a doctor?

People with primary polycythemia should be aware of some potentially serious complications that can occur. Blood clots (heart attack, stroke, blood clots in the lungs or legs) and uncontrolled bleeding (nosebleeds, gastrointestinal bleeding) usually require immediate medical attention from your healthcare provider.

Patients with primary polycythemia should be under the supervision of a hematologist. Diseases leading to secondary polycythemia can be treated by a general practitioner or doctors of other specializations. For example, people with chronic lung disease should be regularly seen by a pulmonologist, and patients with chronic heart disease should be seen regularly by a cardiologist.

Blood test for polycythemia

Diagnosing polycythemia is very easy with a routine blood test. When evaluating a patient with polycythemia, a complete physical examination is necessary. It is especially important to examine the lungs and heart. An enlarged spleen (splenomegaly) is a characteristic feature of polycythemia. Therefore, it is very important to evaluate for splenic enlargement.

To evaluate the cause of polycythemia, it is important to perform a complete blood count, coagulation profile, and metabolic panels. Other typical tests to determine possible causes of polycythemia include: chest x-ray, electrocardiogram, echocardiography, hemoglobin test, and carbon monoxide measurement.

In polycythemia vera, as a rule, other blood cells are also represented by an abnormally high number of white blood cells (leukocytosis) and platelets (thrombocytosis). In some cases, it is necessary to examine the production of blood cells in the bone marrow, for this purpose a bone marrow aspiration or biopsy is performed. The guidelines also recommend testing for the JAK2 gene mutation as a diagnostic criterion for polycythemia vera. Testing your erythropoietin levels is not required, but in some cases this test can provide useful information. In the initial stage of polycythemia, the level of erythropoietin is usually low, but with an erythropoietin-secreting tumor, the level of this enzyme may be elevated. Results must be interpreted because erythropoietin levels may be high in response to chronic hypoxia (if this is the underlying cause of polycythemia).

Treatment of polycythemia

Treatment for secondary polycythemia depends on its cause. Supplemental oxygen may be needed for people with chronic hypoxia. Other treatments may be aimed at treating the cause of polycythemia (for example, appropriate treatment for heart failure or chronic lung disease).

Individuals with primary polycythemia can take several home treatment measures to control symptoms and avoid possible complications. It is important to drink enough fluids to avoid further blood concentration and dehydration. There are no restrictions on physical activity. If a person has an enlarged spleen, contact sports should be avoided to prevent spleen injury and rupture. It is best to avoid iron supplements as they may contribute to the overproduction of red blood cells.

The mainstay of therapy for polycythemia remains bloodletting (blood donation). The goal of phlebotomy is to maintain hematocrit around 45% in men and 42% in women. Initially, phlebotomy may be necessary every 2 to 3 days, removing 250 to 500 ml of blood each time. Once the goal is achieved, bloodletting may not be performed as often.

A widely recommended drug for the treatment of polycythemia is hydroxyurea. This medication is especially recommended for people at risk of developing blood clots. This drug is especially recommended for people over 70 years of age with an increased level of platelets (thrombocytosis; more than 1.5 million), with a high risk of cardiovascular diseases. Hydroxyurea is also recommended for patients who are unable to tolerate phlebotomy. Hydroxyurea can lower all elevated blood counts (white blood cells, red blood cells, and platelets), while phlebotomy only lowers the hematocrit.

Aspirin is also used in the treatment of polycythemia to reduce the risk of blood clots. However, this drug should not be used by people with any history of bleeding. Aspirin is usually used in combination with bloodletting.

Complications of polycythemia

Frequent monitoring is recommended at the beginning of treatment with phlebotomy until an acceptable hematocrit. Some of the complications of primary polycythemia, as listed below, often require constant medical supervision. These complications include: 1) a blood clot (thrombosis) causing a heart attack, blood clots in the legs or lungs, or blood clots in the arteries. These events are considered the leading causes of death in polycythemia; 2) severe blood loss or hemorrhage; 3) transformation into blood cancer (for example, leukemia, myelofibrosis).

Prevention of polycythemia

Many causes of secondary polycythemia cannot be prevented. However, there are some potential preventive measures: 1) stopping smoking; 2) avoid long-term exposure to carbon monoxide; 3) timely treatment of chronic lung diseases, heart disease or sleep apnea.

Primary polycythemia due to gene mutations is usually unavoidable.

Prognosis for polycythemia. The prognosis for primary polycythemia without treatment is generally poor; with a life expectancy of about 2 years. However, with just one bloodletting, many patients can lead normal lives and have a normal life expectancy. The outlook for secondary polycythemia depends largely on the underlying cause of the disease.

Polycythemia vera (erythremia, Vaquez disease or primary polycythemia) is a progressive malignant disease belonging to the group of leukemias, which is associated with hyperplasia of the cellular elements of the bone marrow (myeloproliferation). The pathological process primarily affects the erythroblastic germ, so an excess number of red blood cells is detected in the blood. An increase in the number of neutrophilic leukocytes and platelets is also observed.

ICD-10	D45
ICD-9	238.4
ICD-O	M9950/3
MedlinePlus	000589
MeSH	D011087

An increased number of red blood cells increases blood viscosity, increases its mass, causes a slowdown in blood flow in the vessels and the formation of blood clots. As a result, patients develop impaired blood supply and hypoxia.

General information

Polycythemia vera was first described in 1892 by French and Vaquez. Vaquez suggested that the hepatosplenomegaly and erythrocytosis detected in his patient arose as a result of increased proliferation of hematopoietic cells, and identified erythremia as a separate nosological form.

In 1903, W. Osler used the term “Vaquez disease” to describe patients with splenomegaly (enlarged spleen) and severe erythrocytosis and gave a detailed description of the disease.

Turk (W. Turk) in 1902-1904 suggested that in this disease the disorder of hematopoiesis is hyperplastic in nature, and called the disease erythremia by analogy with leukemia.

The clonal neoplastic nature of myeloproliferation, which is observed in polycythemia, was proven in 1980 by P. J. Fialkov. He discovered one type of enzyme, glucose-6-phosphate dehydrogenase, in red blood cells, granulocytes and platelets. In addition, both types of this enzyme were detected in the lymphocytes of two patients heterozygous for this enzyme. Thanks to Fialkov's research, it became clear that the target of the neoplastic process is the precursor cell of myelopoiesis.

In 1980, a number of researchers managed to separate the neoplastic clone from normal cells. It has been experimentally proven that polycythemia produces a population of erythroid committed precursors that are pathologically highly sensitive to even small amounts of erythropoietin (a kidney hormone). According to scientists, this contributes to increased formation of red blood cells in polycythemia vera.

In 1981, L. D. Sidorova and co-authors conducted studies that made it possible to detect qualitative and quantitative changes in the platelet component of hemostasis, which play a major role in the development of hemorrhagic and thrombotic complications in polycythemia.

Polycythemia vera is detected mainly in older people, but can be observed in young people and children. In young people, the disease is more severe. The average age of patients varies from 50 to 70 years. The average age of those who become ill for the first time is gradually increasing (in 1912 it was 44 years, and in 1964 - 60 years). The number of patients under 40 years of age is about 5%, and erythremia in children and patients under 20 years of age is detected in 0.1% of all cases of the disease.

Erythremia is slightly less common in women than in men (1: 1.2-1.5).

It is the most common disease in the group of chronic myeloproliferative diseases. It is quite rare - according to various sources, from 5 to 29 cases per 100,000 population.

There is isolated data on the influence of racial factors (above the average among Jews and below the average among representatives of the Negroid race), but at the moment this assumption has not been confirmed.

Forms

Polycythemia vera is divided into:

Primary (not a consequence of other diseases).
Secondary. It can be triggered by chronic lung disease, hydronephrosis, the presence of tumors (uterine fibroids, etc.), the presence of abnormal hemoglobins and other factors associated with tissue hypoxia.

An absolute increase in erythrocyte mass is observed in all patients, but only in 2/3 the number of leukocytes and platelets also increases.

Reasons for development

The causes of polycythemia vera have not been definitively established. Currently, there is no single theory that would explain the occurrence of hemoblastoses (blood tumors), to which this disease belongs.

Based on epidemiological observations, a theory was put forward about the connection of erythremia with the transformation of stem cells, which occurs under the influence of gene mutations.

It has been established that most patients have a mutation in the enzyme Janus kinase-tyrosine kinase, synthesized in the liver, which is involved in the transcription of certain genes by phosphorylating many tyrosines in the cytoplasmic part of the receptors.

The most common mutation, discovered in 2005, is in exon 14 JAK2V617F (detected in 96% of all cases of the disease). In 2% of cases, the mutation affects exon 12 of the JAK2 gene.

Patients with polycythemia vera also have:

In some cases, mutations in the thrombopoietin receptor gene MPL. These mutations are of secondary origin and are not strictly specific for this disease. They are detected in older people (mainly women) with low levels of hemoglobin and platelets.
Loss of function of the LNK gene protein SH2B3, which reduces the activity of the JAK2 gene.

Elderly patients with a high JAK2V617F allelic load are characterized by elevated hemoglobin levels, leukocytosis and thrombocytopenia.

With a mutation of the JAK2 gene in exon 12, erythremia is accompanied by a subnormal serum level of the hormone erythropoietin. Patients with this mutation are younger.
In polycythemia vera, mutations of TET2, IDH, ASXL1, DNMT3A, etc. are also often detected, but their pathogenetic significance has not yet been studied.

There were no differences in survival of patients with different types of mutations.

As a result of molecular genetic disorders, the JAK-STAT signaling pathway is activated, which is manifested by proliferation (cell production) of the myeloid lineage. At the same time, proliferation and an increase in the number of red blood cells in the peripheral blood increase (an increase in the number of leukocytes and platelets is also possible).

The identified mutations are inherited in an autosomal recessive manner.

There is also a hypothesis according to which the cause of erythremia may be viruses (15 types of such viruses have been identified), which, in the presence of predisposing factors and weakened immunity, penetrate into immature bone marrow cells or lymph nodes. Cells affected by the virus begin to actively divide instead of maturing, thus starting the pathological process.

Factors that provoke the disease include:

X-ray irradiation, ionizing radiation;
paints, varnishes and other toxic substances that penetrate the human body;
long-term use of certain medications for medicinal purposes (gold salts for rheumatoid arthritis, etc.);
viral and intestinal infections, tuberculosis;
surgical interventions;
stressful situations.

Secondary erythremia develops under the influence of favorable factors when:

high innate affinity of hemoglobin for oxygen;
low levels of 2,3-diphosphoglycerate;
autonomous production of erythropoietin;
arterial hypoxemia of a physiological and pathological nature (“blue” heart defects, smoking, adaptation to high altitude conditions and chronic lung diseases);
kidney diseases (cystic lesions, hydronephrosis, renal artery stenosis and diffuse diseases of the renal parenchyma);
the presence of tumors (possibly influenced by bronchial carcinoma, cerebellar hemangioblastoma, uterine fibroids);
endocrine diseases associated with adrenal tumors;
liver diseases (cirrhosis, hepatitis, hepatoma, Budd-Chiari syndrome);
tuberculosis.

Pathogenesis

The pathogenesis of polycythemia vera is associated with a disruption of the process of hematopoiesis (hematopoiesis) at the level of the progenitor cell. Hematopoiesis acquires the unlimited proliferation of progenitor cells characteristic of a tumor, the descendants of which form a specialized phenotype in all hematopoietic lineages.

Polycythemia vera is characterized by the formation of erythroid colonies in the absence of exogenous erythropoietin (the appearance of endogenous erythropoietin-independent colonies is a sign that distinguishes erythremia from secondary erythrocytosis).

The formation of erythroid colonies indicates a disruption in the implementation of regulatory signals that the myeloid cell receives from the external environment.

The basis of the pathogenesis of polycythemia vera is defects in genes encoding proteins that are responsible for maintaining myelopoiesis within the normal range.

A decrease in oxygen concentration in the blood causes a reaction in the interstitial cells of the kidneys that synthesize erythropoietin. The process occurring in interstitial cells concerns the work of many genes. The main regulation of this process is carried out by factor-1 (HIF-1), which is a heterodimeric protein consisting of two subunits (HIF-1alpha and HIF-1beta).

If the oxygen concentration in the blood is within normal limits, proline residues (the heterocyclic amino acid of the freely existing HIF-1 molecule) are hydroxylated under the influence of the regulatory enzyme PHD2 (molecular oxygen sensor). Thanks to hydroxylation, the HIF-1 subunit acquires the ability to bind to the VHL protein, which provides tumor prevention.

The VHL protein forms a complex with a number of E3 ubiquitin ligase proteins, which, after forming covalent bonds with other proteins, are sent to the proteasome and destroyed there.

During hypoxia, hydroxylation of the HIF-1 molecule does not occur; the subunits of this protein combine and form the heterodimeric HIF-1 protein, which travels from the cytoplasm to the nucleus. Once in the nucleus, the protein binds to special DNA sequences in the promoter regions of genes (the conversion of genes into protein or RNA is induced by hypoxia). As a result of these transformations, erythropoietin is released into the bloodstream by the interstitial cells of the kidneys.

By myelopoiesis precursor cells, the genetic program embedded in them is carried out as a result of the stimulating effect of cytokines (these small peptide control (signal) molecules bind to the corresponding receptors on the surface of the precursor cells).

When erythropoietin binds to the erythropoietin receptor EPO-R, dimerization of this receptor occurs, which activates Jak2, a kinase associated with the intracellular domains of EPO-R.

Jak2 kinase is responsible for signal transmission from erythropoietin, thrombopoietin and G-CSF (which is a granulocyte colony-stimulating factor).

Due to the activation of Jak2-kinase, phospholation of a number of cytoplasmic target proteins occurs, which includes adapter proteins of the STAT family.

Erythremia was detected in 30% of patients with constitutive activation of the STAT3 gene.

Also, with erythremia, in some cases, a reduced level of expression of the thrombopoietin receptor MPL is detected, which is compensatory in nature. The decrease in MPL expression is secondary and is caused by a genetic defect responsible for the development of polycythemia vera.

A decrease in degradation and an increase in the level of the HIF-1 factor is caused by defects in the VHL gene (for example, representatives of the population of Chuvashia are characterized by a homozygous mutation 598C>T of this gene).

Polycythemia vera can be caused by abnormalities of chromosome 9, but the most common is a deletion of the long arm of chromosome 20.

In 2005, a point mutation in exon 14 of the Jak2 kinase gene (mutation JAK2V617F) was identified, which causes the replacement of the amino acid valine with phenylalanine in the pseudokinase domain JH2 of the JAK2 protein at position 617.

The JAK2V617F mutation in hematopoietic precursor cells in erythremia is presented in a homozygous form (the formation of the homozygous form is affected by mitotic recombination and duplication of the mutant allele).

When JAK2V617F and STAT5 are active, the level of reactive oxygen species increases, resulting in a transition of the cell cycle from the G1 to S phase. The adapter protein STAT5 and reactive oxygen species transmit a regulatory signal from JAK2V617F to the cyclin D2 and p27kip genes, which causes an accelerated transition of the cell cycle from phase G1 to S. As a result, the proliferation of erythroid cells that carry a mutant form of the JAK2 gene increases.

In JAK2V617F-positive patients, this mutation is detected in myeloid cells, B- and T-lymphocytes and natural killer cells, which proves the proliferative advantage of defective cells compared to the norm.

Polycythemia vera in most cases is characterized by a fairly low ratio of mutant to normal allele in mature myeloid cells and early precursors. In the presence of clonal dominance, patients have a more severe clinical picture compared to patients without this defect.

Symptoms

Symptoms of polycythemia vera are associated with excess production of red blood cells, which increase blood viscosity. In most patients, the level of platelets, which cause vascular thrombosis, also increases.

The disease develops very slowly and is asymptomatic at the initial stage.
At later stages, polycythemia vera manifests itself:

plethoric syndrome, which is associated with increased blood supply to organs;
myeloproliferative syndrome, which occurs with increased production of red blood cells, platelets and leukocytes.

Plethoric syndrome is accompanied by:

Headaches.
Feeling of heaviness in the head;
Dizziness.
Attacks of pressing, squeezing pain behind the sternum, which occurs during physical activity.
Erythrocyanosis (redness of the skin to a cherry tint and a bluish tint of the tongue and lips).
Redness of the eyes, which occurs as a result of dilation of blood vessels in them.
A feeling of heaviness in the upper abdomen (left), which occurs as a result of an enlarged spleen.
Skin itching, which is observed in 40% of patients (a specific sign of the disease). It intensifies after water procedures and occurs as a result of irritation by the breakdown products of red blood cells of the nerve endings.
An increase in blood pressure, which decreases well with bloodletting and decreases slightly with standard treatment.
Erythromelalgia (sharp, burning pain in the fingertips that is relieved by taking blood thinners, or painful swelling and redness of the foot or lower third of the leg).

Myeloproliferative syndrome manifests itself:

soreness in flat bones and joint pain;
a feeling of heaviness in the right upper abdomen as a result of an enlarged liver;
general weakness and increased fatigue;
increase in body temperature.

Varicose veins are also observed, especially noticeable in the neck area, Cooperman's sign (change in color of the soft palate with normal coloration of the hard palate), duodenal ulcer and, in some cases, stomach, bleeding of the gums and esophagus, and increased uric acid levels. The development of heart failure and cardiosclerosis is possible.

Stages of the disease

Polycythemia vera is characterized by three stages of development:

Initial, stage I, which lasts about 5 years (a longer period is possible). It is characterized by moderate manifestations of plethoric syndrome, the size of the spleen does not exceed the norm. A general blood test reveals a moderate increase in the number of red blood cells; increased formation of red blood cells is observed in the bone marrow (an increase in the number of all blood cells, with the exception of lymphocytes, is also possible). At this stage, complications practically do not arise.
The second stage, which can be polycythemic (II A) and polycythemic with myeloid metaplasia of the spleen (II B). Form II A, lasting from 5 to 15 years, is accompanied by severe plethoric syndrome, enlargement of the liver and spleen, the presence of thrombosis, and bleeding. Tumor growth in the spleen is not detected. Iron deficiency may occur due to frequent bleeding. A general blood test reveals an increase in the number of red blood cells, platelets and leukocytes. Scar changes are observed in the bone marrow. Form II B is characterized by progressive enlargement of the liver and spleen, the presence of tumor growth in the spleen, thrombosis, general exhaustion, and bleeding. A complete blood count can detect an increase in the number of all blood cells, with the exception of lymphocytes. Red blood cells take on different sizes and shapes, and immature blood cells appear. Scar changes in the bone marrow gradually increase.
Anemic, stage III, which develops 15-20 years after the onset of the disease and is accompanied by a pronounced enlargement of the liver and spleen, extensive scar changes in the bone marrow, circulatory disorders, a decrease in the number of red blood cells, platelets and leukocytes. Transformation into acute or chronic leukemia is possible.

Diagnostics

Erythremia is diagnosed based on:

Analysis of complaints, medical history and family history, during which the doctor clarifies when the symptoms of the disease appeared, what chronic diseases the patient has, whether there was contact with toxic substances, etc.
Data from a physical examination, which pays attention to the color of the skin. During palpation and with the help of percussion (tapping), the size of the liver and spleen is determined, pulse and blood pressure are also measured (may be elevated).
A blood test that determines the number of red blood cells (the norm is 4.0-5.5x109 g/l), leukocytes (can be normal, increased or decreased), platelets (at the initial stage does not deviate from the norm, then an increase in the level is observed, and then a decrease ), hemoglobin level, color indicator (usually the norm is 0.86-1.05). ESR (erythrocyte sedimentation rate) is reduced in most cases.
Urinalysis, which allows you to identify concomitant diseases or the presence of renal bleeding.
A biochemical blood test that reveals the increased level of uric acid characteristic of many cases of the disease. To identify organ damage accompanying the disease, the level of cholesterol, glucose, etc. is also determined.
Data from a bone marrow study, which is performed using a puncture in the sternum and reveals increased production of red blood cells, platelets and leukocytes, as well as the formation of scar tissue in the bone marrow.
Trepanobiopsy data, which most fully reflect the condition of the bone marrow. For examination, using a special trephine device, a column of bone marrow is taken from the wing of the ilium along with the bone and periosteum.

A coagulogram, iron metabolism studies are also performed, and the level of erythropoietin in the blood serum is determined.

Since chronic erythremia is accompanied by an enlargement of the liver and spleen, an ultrasound of the internal organs is performed. Ultrasound also detects the presence of hemorrhages.

To assess the extent of the tumor process, SCT (spiral computed tomography) and MRI (magnetic resonance imaging) are performed.

To identify genetic abnormalities, a molecular genetic study of peripheral blood is performed.

Treatment

The goals of treatment for polycythemia vera are:

prevention and treatment of thrombohemorrhagic complications;
elimination of symptoms of the disease;
reducing the risk of complications and development of acute leukemia.

Erythremia is treated with:

Bloodletting, in which 200-400 ml of blood is removed to reduce blood viscosity in young people and 100 ml of blood in case of concomitant heart diseases or in the elderly. The course consists of 3 procedures, which are carried out at intervals of 2-3 days. Before the procedure, the patient takes medications that reduce blood clotting. Bloodletting is not performed in the presence of recent thrombosis.
Hardware treatment methods (erythrocytapheresis), which remove excess red blood cells and platelets. The procedure is carried out at intervals of 5-7 days.
Chemotherapy, which is used at stage II B, in the presence of an increase in the number of all blood cells, poor tolerance to bloodletting, or the presence of complications from internal organs or blood vessels. Chemotherapy is carried out according to a special regimen.
Symptomatic therapy, including antihypertensive drugs for high blood pressure (ACE inhibitors are usually prescribed), antihistamines to reduce skin itching, antiplatelet agents that reduce blood clotting, hemostatic drugs for bleeding.

To prevent thrombosis, anticoagulants are used (usually acetylsalicylic acid is prescribed at 40-325 mg/day).

Nutrition for erythremia must comply with the requirements of the treatment table according to Pevzner No. 6 (the amount of protein foods is reduced, red fruits and vegetables and foods containing dyes are excluded).

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Basic diagnostic information is obtained from the study of peripheral blood and bone marrow. To treat polycythemia, bloodletting, erythrocytapheresis, and chemotherapy are used.

Polycythemia

Polycythemia (Vaquez disease, erythremia, erythrocytosis) is a disease of the group of chronic leukemias, characterized by increased production of red blood cells, platelets and leukocytes, an increase in blood volume, and splenomegaly. The disease is a rare form of leukemia: 4-5 new cases of polycythemia per 1 million population are diagnosed annually. Erythremia develops mainly in patients of the older age group (50-60 years), somewhat more often in men. The relevance of polycythemia is due to the high risk of developing thrombotic and hemorrhagic complications, as well as the likelihood of transformation into acute myeloblastic leukemia, erythromyelosis, and chronic myeloid leukemia.

Causes of polycythemia

The development of polycythemia is preceded by mutational changes in the pluripotent hematopoietic stem cell, which gives rise to all three bone marrow cell lines. The most common mutation detected is the JAK2 tyrosine kinase gene with the replacement of valine by phenylalanine at position 617. Sometimes there is a familial incidence of erythremia, for example, among Jews, which may indicate a genetic correlation.

In polycythemia, there are 2 types of erythroid hematopoietic precursor cells in the bone marrow: some of them behave autonomously, their proliferation is not regulated by erythropoietin; others, as expected, are erythropoietin-dependent. It is believed that the autonomous population of cells is nothing more than a mutant clone - the main substrate of polycythemia.

In the pathogenesis of erythremia, the leading role belongs to enhanced erythropoiesis, which results in absolute erythrocytosis, impaired rheological and coagulation properties of blood, myeloid metaplasia of the spleen and liver. High blood viscosity causes a tendency to vascular thrombosis and hypoxic tissue damage, and hypervolemia causes increased blood supply to internal organs. At the end of polycythemia, depletion of hematopoiesis and myelofibrosis are noted.

Classification of polycythemia

In hematology, there are 2 forms of polycythemia - true and relative. Relative polycythemia develops with a normal red blood cell count and a decrease in plasma volume. This condition is called stress or false polycythemia and is not discussed within the scope of this article.

Polycythemia vera (erythremia) can be primary or secondary in origin. The primary form is an independent myeloproliferative disease, which is based on damage to the myeloid lineage of hematopoiesis. Secondary polycythemia usually develops with increased erythropoietin activity; this condition is a compensatory reaction to general hypoxia and can occur with chronic pulmonary pathology, “blue” heart defects, adrenal tumors, hemoglobinopathies, when climbing to altitude or smoking, etc.

Polycythemia vera goes through 3 stages in its development: initial, advanced and terminal.

Stage I (initial, asymptomatic) – lasts about 5 years; is asymptomatic or with minimally expressed clinical manifestations. Characterized by moderate hypervolemia, slight erythrocytosis; The size of the spleen is normal.

Stage II (erythremic, extensive) is divided into two substages:

IA – without myeloid transformation of the spleen. Erythrocytosis, thrombocytosis, and sometimes pancytosis are noted; according to the myelogram - hyperplasia of all hematopoietic germs, pronounced megakaryocytosis. Duration of the advanced stage of erythremia.
IIB – with the presence of myeloid metaplasia of the spleen. Hypervolemia, hepato- and splenomegaly are pronounced; in peripheral blood - pancytosis.

Stage III (anemic, posterythremic, terminal). Characterized by anemia, thrombocytopenia, leukopenia, myeloid transformation of the liver and spleen, secondary myelofibrosis. Possible outcomes of polycythemia into other hemoblastoses.

Symptoms of polycythemia

Erythremia develops over a long period of time, gradually, and can be detected accidentally during a blood test. Early symptoms, such as heaviness in the head, tinnitus, dizziness, blurred vision, chilly limbs, sleep disturbance, etc., are often attributed to old age or concomitant diseases.

The most characteristic feature of polycythemia is the development of plethoric syndrome, caused by pancytosis and an increase in blood volume. Evidence of plethora is telangiectasia, cherry-red coloring of the skin (especially the face, neck, hands and other open areas) and mucous membranes (lips, tongue), hyperemia of the sclera. A typical diagnostic sign is Cooperman's sign - the color of the hard palate remains normal, but the soft palate acquires a stagnant cyanotic hue.

Another distinctive symptom of polycythemia is skin itching, which intensifies after water procedures and sometimes becomes unbearable. Specific manifestations of polycythemia also include erythromelalgia - a painful burning sensation in the fingertips, which is accompanied by their hyperemia.

In the advanced stage of erythremia, painful migraines, bone pain, cardialgia, and arterial hypertension may occur. 80% of patients have moderate or severe splenomegaly; the liver enlarges somewhat less frequently. Many patients with polycythemia notice increased bleeding of the gums, bruising of the skin, and prolonged bleeding after tooth extraction.

The consequence of ineffective erythropoiesis in polycythemia is an increase in the synthesis of uric acid and a violation of purine metabolism. This finds clinical expression in the development of the so-called urate diathesis - gout, urolithiasis, renal colic.

The result of microthrombosis and disruption of the trophism of the skin and mucous membranes are trophic ulcers of the leg, gastric and duodenal ulcers. The most common complications in the polycythemia clinic are vascular thrombosis of the deep veins, mesenteric vessels, portal veins, cerebral and coronary arteries. Thrombotic complications (PE, ischemic stroke, myocardial infarction) are the leading causes of death in patients with polycythemia. At the same time, along with thrombus formation, patients with polycythemia are prone to hemorrhagic syndrome with the development of spontaneous bleeding of various locations (gingival, nasal, from the esophageal veins, gastrointestinal, etc.).

Diagnosis of polycythemia

Hematological changes characterizing polycythemia are decisive in the diagnosis. A blood test reveals erythrocytosis (up to 6.5-7.5x10 12 /l), increased hemoglobin (dog/l), leukocytosis (over 12x10 9 /l), thrombocytosis (over 400x10 9 /l). The morphology of erythrocytes, as a rule, is not changed; with increased bleeding, microcytosis may be detected. Reliable confirmation of erythremia is an increase in the mass of circulating red blood cells (more than ml/kg).

To study the bone marrow in polycythemia, it is more informative to perform a trepanobiopsy rather than a sternal puncture. Histological examination of the biopsy specimen reveals panmyelosis (hyperplasia of all hematopoietic germs), and in the later stages of polycythemia - secondary myelofibrosis.

To assess the risk of developing complications of erythremia, additional laboratory tests and instrumental studies are carried out - liver function tests, general urine analysis, ultrasound of the kidneys, ultrasound of the veins of the extremities, echocardiography, ultrasound of the vessels of the head and neck, EGD, etc. If there is a threat of thrombohemorrhagic and metabolic disorders, consultations with the appropriate narrow specialists: neurologist, cardiologist, gastroenterologist, urologist.

Treatment and prognosis of polycythemia

In order to normalize the volume of the bcc and reduce the risk of thrombotic complications, the first measure is bloodletting. Blood exfusions are carried out in volume 2-3 times a week, followed by replenishment of the removed blood volume with saline solution or rheopolyglucin. Frequent bloodletting may result in the development of iron deficiency anemia. Bloodletting for polycythemia can be successfully replaced by erythrocytepheresis, which allows only the red blood cell mass to be removed from the bloodstream, returning the plasma.

In case of pronounced clinical and hematological changes, the development of vascular and visceral complications, they resort to myelosuppressive therapy with cytostatics (busulfan, mitobronitol, cyclophosphamide, etc.). Radioactive phosphorus therapy is sometimes given. To normalize the state of aggregation of the blood, heparin, acetylsalicylic acid, dipyridamole are prescribed under the control of a coagulogram; for hemorrhages, platelet transfusions are indicated; for urate diathesis - allopurinol.

The course of erythremia is progressive; the disease is not prone to spontaneous remissions and spontaneous cure. Patients are forced to be under the supervision of a hematologist for life and undergo courses of hemoexfusion therapy. With polycythemia there is a high risk of thromboembolic and hemorrhagic complications. The incidence of transformation of polycythemia into leukemia is 1% in patients who have not undergone chemotherapy treatment, and 11-15% in those receiving cytotoxic therapy.

Symptoms of polycythemia vera and prognosis for life with erythremia

Erythremia (polycythemia vera, Vaquez disease) is a hereditary disease of the blood system, occurring mainly in older women.

This pathology is characterized by malignant bone marrow hypertrophy. Most often, this pathology is known to patients as blood cancer (although such a judgment is erroneous) and leads to a progressive increase in the number of blood cells, primarily red blood cells (the number of other elements also increases). As a result of an increase in their number, an increase in hematocrit is observed, which leads to a decrease in the rheological properties of blood, a decrease in the speed of blood flow through the vessels, and, as a consequence, an increase in thrombus formation and a deterioration in tissue supply.

These reasons lead to the fact that most tissues experience oxygen starvation, which reduces their functional activity (ischemic syndrome). Polycythemia vera occurs mainly in women. Men get sick somewhat less frequently; the incidence of this pathology is approximately 3:2.

On average, Vaquez disease occurs around the age of 40, with symptoms peaking between 60 and 70 years of age. There is a hereditary predisposition to the disease. In the population, erythremia is quite rare - about 30 cases per million population.

Main symptoms of the disease

Erythremia is an excessive saturation of the blood with red blood cells, which leads to various tissue and vascular disorders. Among the most common symptoms are:

Change in skin color. The main reasons are blood stagnation and hemoglobin restoration. Due to reduced blood flow, red blood cells remain in one place longer, which leads to the restoration of the hemoglobin they contain, and as a result, a change in the color of the skin. Patients suffering from this disease have a characteristic appearance - a reddened face and intensely cherry-colored neck. In addition, visible swollen veins are clearly visible under the skin. When studying the mucous membranes, one can observe a characteristic Kuperman symptom - a change in the color of the soft palate while the color of the hard palate remains unchanged.
Itching. This syndrome develops due to an increase in the number of immune cells that have the ability to release specific inflammatory mediators, in particular serotonin and histamine. Itching intensifies after mechanical contact (most often after a shower or bath).
Erythromelalgia - discoloration of the distal phalanges of the fingers with the appearance of pain. This syndrome is caused by an increased content of platelets in the blood, which leads to clogging of small capillaries of the distal phalanges, the development of an ischemic process and pain in their tissues.
Spleno- and hepatomegaly. An increase in these organs is observed in most hematological diseases. If a patient develops erythremia, then the increased concentration of cells in the blood can lead to increased blood flow in these organs, and as a result, their enlargement. This can be determined by palpation or instrumental studies. Megalia syndrome is eliminated on its own after the hemogram parameters are normalized, that is, when the blood test returns to normal.
Thrombosis. Due to the high concentration of cells in the blood and decreased blood flow, a large number of blood clots form in places where the vascular intima is damaged, which leads to blockage of blood vessels in all parts of the body. The development of thrombosis of mesenteric, pulmonary or cerebral vessels is especially dangerous. In addition, blood clots in small vessels of the gastric mucosa lead to a decrease in its protective properties and the appearance of gastritis and ulcers. DIC syndrome may also occur.
Pain. It can develop as a result of vascular disorders, for example, with obliterating endarteritis, and as a result of certain metabolic disorders. With polycythemia, there may be an increase in the level of uric acid in the blood and its deposition in the joint area. In rare cases, pain occurs when percussion or tapping of flat bones containing bone marrow (due to its hyperplasia and stretching of the periosteum).

Among the general symptoms, if erythremia occurs, headache, dizziness, a feeling of heaviness in the head, tinnitus, general weakness syndrome come first (all symptoms are caused by decreased tissue oxygenation, impaired blood circulation in certain parts of the body). When diagnosing, they are not used as mandatory criteria, since they can correspond to any systemic disease.

Stages and degrees of polycythemia

Polycythemia vera occurs in three stages (phases):

stage of initial manifestations. At this stage, the patient does not make specific complaints. He is worried about general weakness, increased fatigue, and a feeling of discomfort in the head. All these symptoms are most often attributed to overwork, social and life problems, which is why the disease itself is diagnosed quite late;
advanced stage (clinical stage). This stage is characterized by the appearance of headaches and changes in the color of the skin and mucous membranes. Pain syndrome develops quite late and indicates advanced disease;
terminal stage. At this stage, damage to internal organs due to ischemia and dysfunction of all body systems are maximally manifested. Death may occur due to secondary pathology.

All stages proceed sequentially, and diagnosis of the disease (blood test) becomes informative from the stage of clinical signs.

Diagnosis of Vaquez disease

To make a diagnosis, a general blood test plays a decisive role. It exhibits pronounced erythrocytosis, an increase in hemoglobin levels and hematocrit. The most reliable is the analysis of bone marrow punctate, which reveals signs of hyperplasia of the erythroid germ, and also calculates how many cells are present in it and what is their morphological distribution.

To clarify the nature of the concomitant pathology, it is recommended to conduct a biochemical analysis, which provides information about the condition of the liver and kidneys. In case of massive thrombosis, the state of blood coagulation factors is assessed by analyzing its coagulability - a coagulogram.

Other studies (ultrasound, CT, MRI) provide only an indirect idea of the state of the body and are not used in making a diagnosis.

Treatment of erythremia

Despite the variety and severity of the manifestations of Vaquez disease, there are relatively few treatments for it. It depends on what the hemogram analysis showed, whether a cytological syndrome has developed and what symptoms the patient has.

As mentioned above, the disease is caused by an increased concentration of blood cells (especially red blood cells), which develops due to bone marrow hyperplasia. In this regard, a correct analysis of the paths of disease development allows us to determine the basic principles of pathogenetic treatment, which include reducing the number of blood cells and acting directly on the sites of their formation. This is achieved through the following treatment methods:

Bloodletting. This method appeared quite a long time ago, however, despite its primitiveness, it is still used to this day. The essence of the procedure is to remove excess blood from the patient’s body. This method can effectively reduce plethora syndrome (plethora), reduce the concentration of red blood cells in the patient’s blood, and improve the rheological properties of his blood. The procedure is carried out several times until the required hematological parameters are achieved (hemoglobin level is about 140 and the number of red blood cells is at 4.5x10^12 degrees). During one procedure, about 300-400 ml of the patient’s blood is removed, previously diluted with a solution of rheopolyglucins and heparin.
Erythrocytopheresis– a procedure aimed at hardware removal of excess red blood cells from the patient’s body. The procedure is based on the principle of creating an artificial blood circulation with a so-called filter for red blood cells. Their excess remains on the filter membranes, and purified blood is returned to the patient’s body. This method of treatment is painless, and the indications and necessary symptoms for its implementation are the same as for bloodletting. However, erythrocytopheresis does not cause vascular damage. The criterion for the effectiveness of red blood cell removal is a normal blood test.

Such treatment should be accompanied by the prescription of antiplatelet drugs such as aspirin, chimes, clopidogrel or anticoagulants (heparin). The use of these drugs with one of the procedures significantly increases the effectiveness of therapy than using them separately.

It is also recommended to add some cytostatic drugs to the treatment regimen (if the cause of bone marrow hyperplasia is cancer), interferons (if secondary viral complications develop) or hormones (mainly dexamethasone and prednisolone are used), which can improve the prognosis of the disease.

Complications, consequences and prognosis

All complications of the disease are caused by the development of vascular thrombosis. As a result of their blockage, infarctions of internal organs (heart, liver, spleen, brain), obliterating atherosclerosis (when thrombosis of the vessels of the lower extremities affected by atherosclerotic plaques) can develop. Excess hemoglobin in the blood provokes the development of hemochromatosis, urolithiasis or gout.

All of them develop secondaryly and require elimination of the underlying cause - erythrocytosis, for the most effective treatment.

As for the prognosis of the disease, much depends on the age at which treatment was started, what methods were used, and whether they were effective.

As mentioned at the beginning, polycythemia vera tends to develop later. If the appearance of the main symptoms in young people (aged 25 to 40 years) is observed, then the disease is malignant, that is, the prognosis is unfavorable, and secondary complications develop much faster. Accordingly, the later the development of the disease is observed, the more benign it is. When adequately prescribed drugs are used, the lifespan of patients is significantly improved. Such patients can live normally with their disease for quite a long time (up to several decades).

Answering the question of what the outcome of erythremia could be, it should be noted that it all depends on:

what secondary processes have developed
what are their reasons
how long have they been around
whether polycythemia vera was diagnosed in a timely manner and the necessary treatment was started.

Most often, due to damage to the liver and spleen, a transition from polycythemia to the chronic form of myeloblastic leukemia is observed. The lifespan with it remains almost the same, and with the correct selection of drugs can reach tens of years (the prognosis is relatively

Polycythemia (erythremia, Vaquez's disease): causes, signs, course, therapy, prognosis

Polycythemia is a disease that can be assumed just by looking at the patient's face. And if you also carry out the necessary blood test, then there will be no doubt at all. In reference books it can also be found under other names: erythremia and Vaquez disease.

Redness of the face is quite common and there is always an explanation for this. In addition, it is short-term and does not last long. Various reasons can cause sudden redness of the face: fever, increased blood pressure, hot flashes during menopause, recent tanning, an awkward situation, and emotionally labile people generally tend to blush often, even if those around them do not see any prerequisites for this.

Polycythemia is different. Here the redness is persistent, not transient, evenly distributed throughout the face. The color of excessively “healthy” plethora is rich, bright cherry.

What kind of disease is polycythemia?

Polycythemia vera (erythremia, Vaquez disease) belongs to the group of hemoblastoses (erythrocytosis) or chronic leukemia with a benign course. The disease is characterized by the proliferation of all three germs of hematopoiesis with a significant advantage of the erythrocyte and megakaryocyte, due to which there is an increase not only in the number of red blood cells - red blood cells, but also the rest of the blood cells that originate from these sprouts, where the source of the tumor process is the affected myelopoiesis precursor cells. They are the ones who begin uncontrolled proliferation and differentiation into mature forms of red blood cells.

The ones that suffer the most under such conditions are immature red blood cells, which are hypersensitive to erythropoietin even in small doses. With polycythemia, an increase in leukocytes of the granulocytic series (primarily band and neutrophils) and platelets. Cells of the lymphoid series, which include lymphocytes, are not affected by the pathological process, since they come from a different germ and have a different path of reproduction and maturation.

Cancer or not cancer?

Erythremia is not to say that it occurs all the time, but in a town of 25 thousand people there are a couple of people, and for some reason, men aged 60 or so “like” this disease more, although anyone can encounter such a pathology age. True, polycythemia vera is absolutely not typical for newborns and young children, so if erythremia is detected in a child, then most likely it will be secondary character and be a symptom and consequence of another disease (toxic dyspepsia, stress erythrocytosis).

For many people, the disease classified as leukemia (and it does not matter: acute or chronic) is primarily associated with blood cancer. Here it is interesting to figure out: is it cancer or not? In this case, it would be more expedient, clearer and more correct to talk about the malignancy or benignity of polycythemia vera in order to determine the boundary between “good” and “evil”. But, since the word “cancer” refers to tumors from epithelial tissues, then in this case this term is inappropriate, because this tumor comes from hematopoietic tissue.

Vaquez disease refers to malignant tumors, but is characterized by high cell differentiation. The course of the disease is long and chronic, for the time being qualified as benign. However, such a course can only last up to a certain point, and then with proper and timely treatment, but after a certain period, when significant changes occur in erythropoiesis, the disease becomes acute and acquires more “evil” features and manifestations. This is what it is like – true polycythemia, the prognosis of which will depend entirely on how quickly its progression occurs.

Why do sprouts grow incorrectly?

Any patient suffering from erythremia sooner or later asks the question: “Why did this “disease happen” to me?” Finding the cause of many pathological conditions is usually useful and gives certain results, increases the effectiveness of treatment and promotes recovery. But not in the case of polycythemia.

The causes of the disease can only be assumed, but not stated unambiguously. There can only be one clue for a doctor to find out the origin of the disease - genetic abnormalities. However, the pathological gene has not yet been found, so the exact localization of the defect has not yet been determined. There are, however, suggestions that Vaquez disease may be associated with trisomy 8 and 9 pairs (47 chromosomes) or another disorder of the chromosomal apparatus, for example, loss of a section (deletion) of the long arm C5, C20, but these are still guesses, although based on conclusions of scientific research.

Complaints and clinical picture

If there is nothing to say about the causes of polycythemia, then a lot can be said about the clinical manifestations. They are bright and varied, since already from the 2nd stage of development of the disease, literally all organs are involved in the process. The patient’s subjective sensations are of a general nature:

Weakness and constant feeling of fatigue;
Significant decrease in performance;
Increased sweating;
Headaches and dizziness;
Noticeable memory loss;
Visual and auditory disorders (decreased).

Complaints characteristic of this disease and characterized by it:

Acute burning pain in the fingers and toes (vessels become clogged with platelets and red blood cells, which form small aggregates there);
The pain, however, is not so burning, in the upper and lower extremities;
Itching of the body (a consequence of thrombosis), the intensity of which noticeably increases after a shower and hot bath;
Periodic appearance of a rash such as urticaria.

It's obvious that cause all these complaints - microcirculation disorder.

redness of the skin due to polycythemia

As the disease further develops, more and more new symptoms are formed:

Hyperemia of the skin and mucous membranes due to the expansion of capillaries;
Pain in the heart area, reminiscent of angina pectoris;
Painful sensations in the left hypochondrium caused by overload and enlargement of the spleen due to the accumulation and destruction of platelets and red blood cells (it is a kind of depot for these cells);
Enlarged liver and spleen;
Peptic ulcer of the stomach and duodenum;
Dysuria (difficulty urinating) and pain in the lumbar region due to the development of uric acid diathesis, caused by a shift in the buffer systems of the blood;
Pain in bones and joints as a result hyperplasia(excessive growth) bone marrow;
Gout;
Manifestations of a hemorrhagic nature: bleeding (nose, gum, intestinal) and skin hemorrhages;
Injections of conjunctival vessels, which is why the eyes of such patients are called “rabbit eyes”;
Telangiectasia;
Tendency to thrombosis of veins and arteries;
Varicose veins of the leg;
Thrombophlebitis;
Possible thrombosis of coronary vessels with the development of myocardial infarction;
Intermittent claudication, which may result in gangrene;
Arterial hypertension (almost 50% of patients), creating a tendency to strokes and heart attacks;
Damage to the respiratory system due to immunity disorders, which cannot adequately respond to infectious agents that cause inflammatory processes. In this case, red blood cells begin to behave like suppressors and suppress the immunological response to viruses and tumors. In addition, they are found in abnormally high quantities in the blood, which further aggravates the condition of the immune system;
The kidneys and urinary tract suffer, so patients have a tendency to pyelonephritis and urolithiasis;
The central nervous system does not remain aloof from the events occurring in the body; when it is involved in the pathological process, symptoms of cerebrovascular accident, ischemic stroke (with thrombosis), hemorrhage (less often), insomnia, memory impairment, and mnestic disorders appear.

From asymptomatic period to terminal stage

Due to the fact that polycythemia in the first stages is characterized by an asymptomatic course, the above manifestations do not occur in one day, but accumulate gradually and over a long period of time, it is customary to distinguish 3 stages in the development of the disease.

Initial stage. The patient's condition is satisfactory, the symptoms are moderate, the duration of the stage is about 5 years.

Stage of advanced clinical manifestations. It takes place in two stages:

II A – occurs without myeloid metaplasia of the spleen, subjective and objective symptoms of erythremia are present, the duration of the period is years;

II B – myeloid metaplasia of the spleen appears. This stage is characterized by a clear picture of the disease, the symptoms are pronounced, the liver and spleen are significantly enlarged.

The terminal stage, which has all the signs of a malignant process. The patient’s complaints are varied, “everything hurts, everything is wrong.” At this stage, cells lose the ability to differentiate, thereby creating a substrate for leukemia, which replaces chronic erythremia, or rather, it turns into acute leukemia.

The terminal stage is characterized by a particularly severe course (hemorrhagic syndrome, rupture of the spleen, infectious and inflammatory processes that cannot be treated due to profound immunodeficiency). Usually it soon ends in death.

Thus, the life expectancy for polycythemia is years, which may not be bad, especially considering that the disease can occur after 60. This means that there is some prospect of living up to 80 years. However, the prognosis of the disease still depends most on its outcome, that is, on what form of leukemia erythremia transforms into at stage III (chronic myeloid leukemia, myelofibrosis, acute leukemia).

Diagnosis of Vaquez disease

The diagnosis of polycythemia vera is primarily based on laboratory data, measuring the following indicators:

A general blood test, in which you can notice a significant increase in red blood cells (6.0-12.0 x/l), hemoglobin (G/l), hematocrit (ratio of plasma and red blood). The number of platelets can reach levels of 10 9 / l, while they can significantly increase in size, and leukocytes - up to 9.0-15.0 x 10 9 / l (due to rods and neutrophils). ESR in polycythemia vera is always reduced and can reach zero.

Morphologically, red blood cells do not always change and often remain normal, but in some cases with erythremia one can observe anisocytosis(red blood cells of different sizes). The severity and prognosis of the disease with polycythemia in a general blood test is indicated by platelets (the more there are, the more severe the course of the disease);

BAC (biochemical blood test) with determination of the level of alkaline phosphatase and uric acid. For erythremia, the accumulation of the latter is very characteristic, which indicates the development of gout (a consequence of Vaquez's disease);
Radiological testing using radioactive chromium helps determine the increase in circulating red blood cells;
Sternal puncture (bone marrow collection from the sternum) followed by cytological diagnosis. In the preparation - hyperplasia of all three lineages with a significant predominance of red and megakaryocytic;
Trephine biopsy(histological examination of material taken from the ilium) is the most informative method that allows you to most reliably identify the main symptom of the disease - three-line hyperplasia.

In addition to hematological parameters, to establish a diagnosis of polycythemia vera, the patient is referred for an ultrasound examination of the abdominal organs (enlarged liver and spleen).

So, the diagnosis has been made... What next?

And then the patient awaits treatment in the hematology department, where the tactics are determined by clinical manifestations, hematological parameters and the stage of the disease. Treatment measures for erythremia usually include:

Bloodletting, which allows you to reduce the number of red blood cells to 4.5-5.0 h/l and Hb (hemoglobin) to 150 g/l. To do this, 500 ml of blood is taken at intervals of 1-2 days until the number of red blood cells and Hb drops. Hematologists sometimes replace the bloodletting procedure with erythrocytopheresis, when, after collection by centrifugation or separation, red blood is separated and the plasma is returned to the patient;
Cytostatic therapy (myelosan, imifos, hydroxyurea, hydroxyurea);
Antiplatelet agents (aspirin, dipyridamole), which, however, require caution in use. Thus, acetylsalicylic acid can enhance the manifestation of hemorrhagic syndrome and cause internal bleeding if the patient has a stomach or duodenal ulcer;
Interferon-α2b, successfully used with cytostatics and increasing their effectiveness.

The treatment regimen for erythremia is prescribed by the doctor individually for each case, so our task is only to briefly introduce the reader to the drugs used to treat Vaquez disease.

Nutrition, diet and folk remedies

A significant role in the treatment of polycythemia is given to the regime of work (reducing physical activity), rest and nutrition. In the initial stage of the disease, when the symptoms are not yet expressed or are weakly manifested, the patient is assigned to table No. 15 (general), albeit with some reservations. The patient is not recommended to consume foods that enhance hematopoiesis (liver, for example) and is asked to reconsider the diet, giving preference to dairy and plant products.

In the second stage of the disease, the patient is prescribed table No. 6, which corresponds to the diet for gout and limits or completely excludes fish and meat dishes, legumes and sorrel. After being discharged from the hospital, the patient must adhere to the recommendations given by the doctor during outpatient observation or treatment.

Question: “Can it be treated with folk remedies?” sounds with the same frequency for all diseases. Erythremia is no exception. However, as already noted, the course of the disease and the patient’s life expectancy depend entirely on timely treatment, the goal of which is to achieve a long and stable remission and delay the third stage for as long as possible.

During the period of lull in the pathological process, the patient must still remember that the disease can return at any time, so he must discuss his life without an exacerbation with the attending physician with whom he is being observed, periodically take tests and undergo examinations.

Treatment with folk remedies for blood diseases should not be generalized, and if there are many recipes for increasing hemoglobin levels or for thinning the blood, this does not mean at all that they are suitable for treating polycythemia, for which, in general, no medicinal herbs have yet been found. Vaquez's disease is a delicate matter, and in order to control the function of the bone marrow and thus influence the hematopoietic system, you need to have objective data that can be assessed by a person with certain knowledge, that is, the attending physician.

In conclusion, I would like to say a few words to the readers about relative erythremia, which should not be confused with the true one, since relative erythrocytosis can occur against the background of many somatic diseases and successfully end when the disease is cured. In addition, erythrocytosis as a symptom can accompany prolonged vomiting, diarrhea, burn disease and hyperhidrosis. In such cases, erythrocytosis is a temporary phenomenon and is associated primarily with dehydration of the body, when the amount of circulating plasma, which is 90% water, decreases.

Prognosis for polycythemia vera

Among blood diseases, there are many that cause a decrease in various elements - red blood cells, white blood cells, platelets. But in some pathologies, on the contrary, there is an uncontrolled increase in the number of blood cells. A condition in which there is a chronic increase in the number of red blood cells and other pathological changes occur is called “polycythemia vera.”

Features of the disease

Primary (true) polycythemia is a blood disease from the leukemia group that occurs idiopathically (for no apparent reason), has a long-term (chronic) course and is characterized by an increase in the number of red blood cells, an increase in hematocrit and blood viscosity. Synonyms for the name of the pathology are Vaquez-Osler disease, erythremia, primary erythrocytosis. The consequences of erythrocytosis and blood thickening in this myeloproliferative disease can be serious and relate to the risk of thrombosis, an increase in size and disruption of the spleen, an increase in the volume of circulating blood, etc.

Erythremia is considered a malignant tumor process, which is caused by increased proliferation (hyperplasia) of bone marrow cells. The pathological process is especially strong in the erythroblastic germ - a part of the bone marrow consisting of erythroblasts and normoblasts. The pathogenesis of the main manifestations is associated with the appearance of a huge number of red blood cells in the blood, as well as with a slight increase in the number of platelets and neutrophils (neutrophilic leukocytes). Blood cells are morphologically normal, but their number is abnormal. As a result, blood viscosity and the amount of blood in the circulating bloodstream increase. The result is a slower flow of blood, the formation of blood clots, disruption of the local blood supply to tissues and their hypoxia.

If initially the patient most often experiences primary erythrocytosis, that is, only the number of red blood cells increases, then further changes begin to affect other blood cells. Extramedullary hematopoiesis (pathological formation of blood outside the bone marrow) occurs in the organs of the peritoneum - in the liver and spleen, where part of erythropoiesis - the process of formation of red blood cells - is also localized. At a late stage of the disease, the life cycle of erythrocytes is shortened, anemia, thrombocytopenia, myelofibrosis may develop, and the precursor cells of leukocytes and erythrocytes enter the general bloodstream without maturing. In approximately 10% of cases, the pathology develops into acute leukemia.

The study and first description of erythrocytosis was made in 1892 by Vaquez, and in 1903 the scientist Osler suggested that the cause of the disease was a malfunction of the bone marrow. Polycythemia vera is observed somewhat more often than other similar pathologies, but is still quite rare. It is diagnosed in approximately 5 people per year per 1 million population. Most often, the disease occurs in people over 50 years of age, the average age of detection is 60 years. In children, such a diagnosis is made very rarely, mainly after 12 years. On average, only 5% of cases are under 40 years of age. Men suffer from this pathology more often than women. In the general structure of chronic myeloproliferative diseases, polycythemia vera ranks 4th. Sometimes it is inherited, so there are familial cases.

Causes of pathology

The primary form of the disease is considered hereditary and is transmitted in an autosomal recessive manner. In this case, it is often referred to as “familial polycythemia.” But most often, erythremia is a secondary condition, representing one of the manifestations of a general pathological process. The exact causes have not been established, but there are several theories about the appearance of polycythemia vera. Thus, there is a connection between the development of the disease and the transformation of stem cells, when a tyrosine kinase mutation occurs, which occurs in polycythemia vera more often than in other blood diseases.

Studies of cells in erythremia revealed the clonal origin of the pathology in many patients, since the same enzyme was detected in leukocytes, platelets, and erythrocytes. The clonal theory is also confirmed by ongoing cytological studies regarding the karyotype of chromosome groups, where various defects were identified, similar in different patients. There is also a viral-genetic theory, according to which up to 15 types of viruses can invade the body and, with the participation of a number of provoking factors, lead to a malfunction of the bone marrow. They penetrate the precursors of blood cells, which then, instead of maturing normally, begin to divide and form new red blood cells and other cells.

As for the risk factors for the development of polycythemia vera, presumably they may be the following:

lung diseases;
long stay at high altitudes above sea level;
pulmonary hypoventilation syndromes;
various hemoglobinopathies;
long history of smoking;
tumors of bone marrow, blood;
hemoconcentration with long-term use of diuretics;
burns of a large part of the body;
severe stress;
diarrhea;
exposure to x-rays, radiation;
poisoning by chemical vapors, penetration through the skin;
entry of toxic substances into the gastrointestinal tract;
treatment with gold salts;
advanced tuberculosis;
major surgical interventions;
“blue” heart defects;
kidney pathologies - hydronephrosis, stenosis of the renal arteries.

Thus, the main cause of secondary erythrocytosis are all conditions that in one way or another provoke tissue hypoxia, stress for the body or its intoxication. In addition, oncological processes, endocrine pathologies, and liver diseases can have a great impact on the brain and its production of additional blood cells.

Classification of polycythemia vera

The disease is classified into the following stages:

The first, or initial stage. It can last more than 5 years and represents the development of plethoric syndrome, that is, increased blood supply to organs. At this stage, symptoms may be moderate, complications do not occur. A general blood test reflects a slight increase in the number of red blood cells, a bone marrow puncture shows an increase in erythropoiesis or the production of all the main elements of blood, with the exception of lymphocytes.
The second is stage A, or polycythemic stage. Duration - from 5 to 15 years. Plethoric syndrome is more pronounced, an enlargement of the spleen and liver (blood-forming organs) is observed, and thrombus formation in the veins and arteries is often recorded. No tumor growth was observed in the peritoneal organs. If this stage ends with a decrease in the number of platelets - thrombocytopenia, then the patient may experience various bleedings. Frequent hemorrhages cause a lack of iron in the body. A general blood test reflects an increase in red blood cells, platelets, and leukocytes; in advanced cases, a decrease in platelets. The myelogram shows increased formation of most blood cells (with the exception of lymphocytes), and scar changes in the brain are formed.
The second is stage B, or polycythemic stage with myeloid metaplasia of the organ - the spleen. The patient's spleen and often the liver continue to increase in size. Puncture of the spleen reveals tumor growth. There are frequent thromboses interspersed with bleeding. In the general analysis, there is an even greater increase in the number of erythrocytes, leukocytes, there are erythrocytes of different sizes, shapes, and immature precursors of all blood cells are present. The number of scar changes in the bone marrow increases.
Third, or anemic stage. It is the outcome of a disease in which the activity of blood cells is depleted. The number of red blood cells, white blood cells, and platelets is greatly reduced, the liver and spleen are enlarged with myeloid metaplasia, and extensive scarring occurs in the bone marrow. A person becomes disabled, most often due to the consequences of thrombosis or the addition of acute leukemia, myelofibrosis, hematopoietic hypoplasia or chronic myeloid leukemia. This stage is recorded approximately one year after the development of the pathology.

Symptoms of manifestation

Often this pathology is asymptomatic, but only in its initial stages. Later, the patient’s disease manifests itself in one way or another, and the specific symptoms can be varied. Basically, the symptom complex includes the following main signs:

Change in skin tone, dilation of veins. Most often, in the neck area of an adult, the veins begin to become very visible; their pattern becomes stronger due to swelling and overfilling with blood. But the skin signs become the most obvious: the skin color becomes dark red, literally cherry. This is most noticeable in the neck, arms, and face, which is associated with overfilling of the subcutaneous arteries with blood. At the same time, many patients mistakenly think that blood pressure rises due to hypertension, and therefore often continue to take blood pressure medications and do not consult a doctor. If you pay close attention to your health, you will notice that your lips and tongue have also changed their color and become red-blue. The blood vessels of the eyes also become engorged, their plethora leads to hyperemia of the sclera and conjunctiva of the organs of vision. The hard palate remains the same color, but the soft palate also becomes brighter, burgundy.
Itchy skin. All described changes in the skin in approximately half of the cases are complemented by severe discomfort and itching. This symptom is very characteristic of erythremia, both primary and secondary. Since patients release histamine as well as prostaglandins after taking water treatments, itching of the skin may become even more pronounced after a bath or shower.
Pain in the limbs. Many people develop obliterating endarteritis, which results in persistent and severe pain in the legs. They can intensify with exercise, long walking, in the evening, and at first they are often perceived as a symptom of fatigue in an elderly person. Pain is also observed with palpation and tapping of flat bones, which reflects the process of hyperplasia and cicatricial changes in the bone marrow. The next type of pain in a person with polycythemia vera is persistent burning pain in the area of large and small joints of the legs, which resemble gouty pain and are caused by the same cause as gout - an increase in the level of uric acid. Another type of pain is severe, poorly tolerated pain in the fingers and toes, in which the skin becomes bluish-red and blue spots appear on it. These pains are caused by an increase in the number of platelets and the appearance of capillary microthrombosis.
Splenomegaly. An increase in size of the spleen is observed in almost every person with polycythemia vera, but at different stages of the disease. This occurs due to increased filling of the spleen with blood and the development of myeloproliferative phenomena. Somewhat less frequently, but still occurring, is a strong increase in the size of the liver - hepatomegaly.
Peptic ulcer disease. About one in ten people with Vaquez-Osler disease develop ulcers in the small intestine (usually the duodenum) and stomach. This is due to the activation of Helicobacter pylori bacteria, as well as the development of microthrombosis in the gastrointestinal tract.
Thrombosis and bleeding. Almost all patients at a certain stage develop a tendency to thrombosis, and until recently, patients died from such complications at an early stage of the disease. Modern treatment currently being carried out can prevent the appearance of blood clots in the brain, spleen, and legs, which threaten embolism and death. Increased blood viscosity characterizes polycythemia vera in the initial stages, and later, against the background of depletion of the platelet formation system, bleeding develops - it is observed in the gums, nose, uterus, and gastrointestinal tract.

There are other signs of polycythemia vera that a person may complain about, but they are not very specific and can be characteristic of different pathologies:

fatigue;
head goals;
tinnitus;
nausea;
dizziness;
feeling of pulsation in the temples, ears;
decreased appetite and performance;
the appearance of “flies” before the eyes;
other visual impairments - loss of fields, loss of visual acuity;
shortness of breath, coughing;
increased blood pressure;
unexplained weight loss;
prolonged low-grade fever;
insomnia;
numbness, tingling of fingers;
epileptiform seizures and paralysis (rare).

In general, the disease is characterized by a long and sometimes benign course, especially with adequate treatment. But some people, especially those not receiving therapy, may experience early onset of various effects of polycythemia vera.

Possible complications

Most often, complications are associated with thrombosis and embolism of the veins and vessels of the spleen, liver, legs, brain, and other areas of the body. This leads to different consequences depending on the size of the blood clot and the affected area. Transient ischemic attacks, strokes, thrombophlebitis and phlebothrombosis of superficial and deep veins, blockage of retinal vessels and blindness, infarction of internal organs, and myocardial infarction may occur.

At the most advanced stages of pathology, kidney stones (urolithiasis), gout, nephrosclerosis, and cirrhosis of the liver often appear. Complications are likely to occur due to tissue bleeding - bleeding from gastrointestinal ulcers, anemia. On the part of the heart, in addition to myocardial infarction, signs of myocardiosclerosis and heart failure are also possible. There is also a possibility of transition of polycythemia vera to acute leukemia, chronic leukemia and other oncological pathologies.

Carrying out diagnostics

Making a diagnosis of this disease is not easy, especially in the absence of a characteristic clinical picture and in the presence of only general symptoms. However, the totality of data from hematological and biochemical tests, as well as some distinctive features of the patient’s appearance, coupled with his complaints, will help the doctor determine the cause of the changes occurring.

The main indicators for establishing the diagnosis of polycythemia vera are the general blood test indicators - the number of red blood cells and hematocrit. In men, the development of this disease can be suspected if the number of red blood cells is more than 5.7*10*9/l, hemoglobin is more than 177 g/l, and the hematocrit is above 52%. In women, excess values are noted if they are more than 5.2*10*9/l, 172 g/l, 48-50%, respectively. These figures are typical for the early stages of the pathology, and as it develops they become even higher. In addition, it is important to assess the mass of circulating red blood cells, which is normally up to 36 ml/kg for men and up to 32 ml/kg for women.

Other blood parameters (biochemistry, general analysis and other tests), which, in combination with the described disorders and in combination with each other, reflect the picture of the development of primary or secondary erythrocytosis:

Moderate or severe thrombocytosis (above 400*10*9 l), neutrophilic leukocytosis (above 12*10*9 l) with the presence of an increased number of basophils and eosinophils.
Increased reticulocyte count.
The appearance of myelocytes and metamyelocytes in the blood.
Increase in blood viscosity by%.
Severe decrease in ESR.
Increase in the mass of circulating red blood cells.
Increased alkaline phosphatase, vitamin B12 in serum.
Increase in the amount of uric acid in the serum.
Blood saturation in the arteries with oxygen is above 92%.
The appearance of colonies of erythrocytes in a test tube.
Decrease in erythropoietin levels.
A change in color index of less than 1.

At the stage of myelofibrosis, hemoglobin and red blood cell levels may return to normal, but at the same time the number of leukocytes increases greatly, their immature forms appear, and the presence of erythroblasts is diagnosed. As for the myelogram, which is obtained by puncturing the bone marrow, the following changes are revealed:

reducing the presence of fatty inclusions;
increase in erythroblasts, normoblasts;
hyperplasia of myelopoiesis sprouts.

There are other criteria by which the doctor can draw a conclusion about the changes occurring that are characteristic of polycythemia vera:

Hepatosplenomegaly.
Tendency to thrombosis.
Increased sweating combined with weight loss and weakness.
The presence of gene abnormalities, if genetic testing has been performed, when it comes to primary erythremia.
Increasing the average amount of circulating blood.

All the criteria described above, except the three main ones, which are considered large, are small. As for the major diagnostic criteria, these are an increase in the mass of circulating red blood cells, splenomegaly, and oversaturation of arterial blood with oxygen. To make a diagnosis, it is usually sufficient to have three of these major criteria, which are combined with two or three minor ones. Differential diagnosis is carried out by a hematologist between conditions that are accompanied by erythrocytosis - heart defects, tuberculosis, tumors, etc.

Treatment methods

The sooner a person seeks help, the more effective therapy can be. At the third stage, or when another tumor process is superimposed on erythremia, symptomatic therapy is carried out in combination with treatment with chemotherapy. Chemotherapy treatment may be recommended at other stages of the disease, but the body does not always respond adequately to it. Among the symptomatic remedies that improve the quality of life, the following are used:

Drugs against high blood pressure, mainly from the group of ACE inhibitors.
Antihistamines for itching, skin irritation, and other allergic reactions.
Antiplatelet agents and anticoagulants for blood thinning with a tendency to thrombosis.
Local and systemic hemostatic agents for tissue bleeding.
Medicines to reduce uric acid levels.

Treatment methods for polycythemia vera may include:

Bloodletting, or removing a small amount of blood from the bloodstream (phlebotomy). As a rule, they are done in volume (according to indications) and with a break of 3-4 days in a course of several sessions. After such manipulations, the blood becomes more fluid, but they cannot be done if there is a recent history of blood clots. Before treatment with bloodletting, the patient is administered a solution of Reopoliglucin, as well as Heparin.
Erythrocytapheresis. Used to cleanse the blood of excess red blood cells, as well as platelets. Such sessions are done once a week.
Chemotherapy. It is used, as a rule, when the disease reaches the tumor stage - second B. Other indications for chemotherapy are the presence of complications from the peritoneal organs, the general difficult situation of the person, and an increase in the amount of all blood elements. For chemotherapy or cytoreductive therapy, cytostatics, antimetabolites, alkylating drugs, and biological drugs are used. The most commonly prescribed medications are Leukeran, Hydroxyurea, Myelosan, and recombinant interferon.
Treatment of iron deficiency with androgens, erythropoietin, which are most often used in combination with glucocorticosteroids.
Radiation therapy. It is used to irradiate the area of the spleen and stop the cancer process in it; it is used when the organ greatly increases in size.
Transfusion of red blood cells from purified red blood cells. Used for severe anemia up to coma. If thrombocytopenia increases in the final stages of polycythemia vera, a transfusion of platelet mass from a donor may be necessary.

Bone marrow transplantation for a disease such as erythremia often leads to unfavorable results and is therefore rarely used. In some cases, splenectomy is indicated, but with the development of acute leukemia, such an operation is not performed even with severe splenomegaly.

Features of treatment in pregnant women

During pregnancy, this pathology occurs rarely. However, if there is a predisposition (hereditary or from secondary factors), pregnancy, childbirth and abortion can become a trigger for the development of polycythemia vera. Pregnancy always worsens the course of this disease, and its outcome may be more serious than outside gestation. However, in 50% of cases, pregnancy ends in a successful birth. The remaining half is due to miscarriages, developmental delays, and structural anomalies of the fetus.

Treatment of the disease in pregnant women is not easy. Most drugs are strictly contraindicated, as they have a pronounced teratogenic property. Therefore, during pregnancy, therapy is predominantly performed with bloodletting and, if necessary, glucocorticosteroids. To prevent complications and early detection of the disease in pregnant women, blood tests should be carried out regularly according to the schedule designated by the observing obstetrician-gynecologist.

What not to do

It is strictly forbidden to use diuretics, which further thicken the blood. Also in our time, the use of radioactive phosphorus preparations, which seriously inhibit myelopoiesis and often lead to the development of leukemia, is limited. You also cannot maintain the same nutritional system: the diet must change. All foods that enhance hematopoiesis, such as liver, are prohibited. It is better to create a dairy-vegetable diet and avoid excess meat.

The patient should not overload the body, engage in strenuous sports, or ignore regular rest. Treatment with folk remedies can be used, but only after a doctor has carefully studied all the remedies according to their composition, in order to prevent an increase in the production of red blood cells. Most often, symptomatic therapy is used to remove uric acid, reduce pain and itching of the skin, etc.

Prevention and prognosis

Prevention methods have not yet been developed. The prognosis for life varies depending on the severity of the disease. Without treatment, up to a third of patients die within the first 5 years from diagnosis. If you carry out full-fledged therapy, you can extend a person’s life for years or more. The most common cause of death is thrombosis, and only occasionally do people die from blood cancer (leukemia) or severe bleeding.

Polycythemia vera is a blood disease from the group of chronic leukemias, characterized by tumor proliferation (reproduction) mainly of red blood cells. Therefore, this disease is otherwise called erythremia (from the Greek words “red” and “blood”).

Causes and mechanisms of development

The cause of polycythemia vera is unknown. It is assumed that in this disease the regulation of the process of erythrocyte formation itself is initially disrupted.

According to the modern theory of hematopoiesis, all human blood cells have one precursor cell. As the descendants of this stem cell divide and multiply, they acquire increasingly specific features and eventually become red blood cells, white blood cells, or platelets. With erythremia, the balance of the blood cell system changes, and uncontrolled excess formation of red blood cells begins. At the same time, other cells (leukocytes and platelets) are also formed in excess, but not so pronounced.

As a result, an increased number of red blood cells appears in a person’s blood, not due to external reasons. In this way, erythremia differs from erythrocytosis, which is the body’s response to an external factor (for example, lack of oxygen in the air).

An increase in the number of red blood cells in the blood, as well as impaired platelet function, leads to increased thrombus formation.

As the disease progresses, so-called myeloid metaplasia may occur, which is characterized by inhibition of all hematopoietic germs with development.

Symptoms

The appearance of a patient with polycythemia vera is quite characteristic. Most often this is a middle-aged or elderly person who is overweight. The face is red, the sclera is injected. Lips and tongue have a characteristic cherry tint. Such external symptoms are called “erythrosis.”

Patients show signs of dysfunction of the central nervous system. There are complaints of tinnitus. Frequent fainting and... Sometimes the patient's health deteriorates so much that he cannot perform any mental work. Worries about decreased memory and attention, weakness, irritability.

Patients often indicate pain in the chest. However, these sensations are most often caused by pain in the sternum itself as a result of increased blood supply to its tissue. However, such patients have a high risk, including coronary vessels, with the development of and.

Thrombotic complications can lead to thrombophlebitis of the mesenteric veins with the development of corresponding symptoms. The occurrence of cerebral circulatory disorders is also possible.

In patients with erythremia, it is often diagnosed, which is associated with a violation of the nervous regulation of the body. Occasionally, arterial hypertension develops (this is not a very characteristic symptom for polycythemia).

Along with thrombosis, hemorrhagic syndrome is often observed, associated with a tendency to bleed. Not only nosebleeds are a concern, but also hemorrhoids, from dilated veins of the esophagus, as well as bleeding gums. Subcutaneous hemorrhages are also observed, and ecchymoses (bruises) easily form.

About half of patients experience intense skin itching after taking a hot bath; this is a characteristic symptom of erythremia. Some patients experience burning pain in the fingertips, which is also characteristic of polycythemia vera. Tactile and pain sensitivity may be impaired.

In most patients, the spleen enlarges, which can manifest itself as a feeling of heaviness in the left hypochondrium, or a feeling of excessively rapid satiety when eating.

How does the disease develop? The course of erythremia can be relatively benign, when patients live for many years without severe complications. In some cases, within a few years from the first manifestation of the disease, serious thrombosis of cerebral or abdominal vessels occurs, leading to death.

At the first stage, an objective picture is provided by a blood test. Erythremia should be suspected if the number of red blood cells exceeds 5.7 * 1012/l for men and more than 5.2 * 1012/l for women. The hemoglobin level is higher than 177 g/l in men and 172 g/l in women. Diagnosis of this disease is carried out on the basis of special criteria. A necessary component of the diagnostic search is trephine biopsy of the ilium.

Treatment

Bloodletting relieves the condition of patients with polycythemia.

Polycythemia vera is most often treated on an outpatient basis. Indications for hospitalization are severely severe disease, a decrease in the number of leukocytes and platelets after treatment with cytostatics, the need for bone marrow or spleen puncture, trepanobiopsy of the ilium. The patient must be hospitalized if surgery is planned, even minor (for example, tooth extraction).

The treatment program includes the following areas:

bloodletting;
erythrocytapheresis;
cytostatic drugs;
symptomatic treatment.

Bloodletting

This is the main treatment for people under 50 years of age. When part of the circulating blood is removed from the body, the vascular bed is unloaded, skin itching is alleviated, and the likelihood of thrombotic complications is reduced.

As an independent method of treatment, bloodletting is used for benign polycythemia, as well as during the childbearing and premenopausal periods. If erythremia relapses after a course of chemotherapy, bloodletting may also be prescribed. They must be carried out until there is a significant decrease in hemoglobin levels (not higher than 150 g/l).

The procedure is usually performed in a clinic setting. During one session, from 350 to 500 ml of blood is withdrawn. Bloodletting sessions are repeated every 2 days until the desired results are achieved. In the future, blood tests are monitored once every two months.

As a result of bloodletting, the iron content in the body decreases. Most often, patients tolerate it well. However, sometimes weakness, hair loss, and severe iron deficiency anemia occur. In this case, iron supplements should be prescribed in combination with cytostatic drugs.

Bloodletting is not prescribed if its effect is small and short-term, or if there are severe signs of iron deficiency.

Erythrocytapheresis

During this procedure, 1–1.4 liters of blood are taken from the patient’s vascular bed. Red blood cells are removed from it using special equipment. The remaining plasma is brought to the original volume with saline and poured into the venous system. Erythrocytapheresis is an alternative to bloodletting. Courses of such treatment provide an effect for 1-2 years.

Cytostatic therapy

In severe cases of the disease, when bloodletting is ineffective, in people over 50 years of age, cytostatic drugs are prescribed. They inhibit the proliferation of cells in the bone marrow. As a result, the number of all blood cells, including red blood cells, decreases. When treating with cytostatics, blood tests are regularly performed to monitor the effectiveness and safety of treatment.

The most commonly used are alkylating cytostatics and antimetabolites. Radioactive phosphorus 32P is used less frequently; it is indicated mainly for elderly people.

Symptomatic therapy

For vascular thrombosis, antiplatelet agents and heparin are prescribed. For acute thrombophlebitis, local treatment is carried out: cooling the leg with ice packs on the first day, then heparin ointment and Vishnevsky ointment.

For severe bleeding, aminocaproic acid, fresh frozen plasma, and a hemostatic sponge are prescribed locally.

Erythromelalgia (pain in the tips of the fingers, soles) is treated (indomethacin, voltaren). Heparin may also be prescribed.

In case of cerebrovascular accident, hypertension, gastric ulcer, appropriate medication regimens are used. They are used to treat itchy skin. Cimetidine (an H2 receptor blocker) is sometimes effective.

Indications for removal of the spleen for erythremia.