home Adviсe Erythremia polycythemia vera. Classification, symptoms and treatment of polycythemia. Polycythemia - what is it?

Erythremia polycythemia vera. Classification, symptoms and treatment of polycythemia. Polycythemia - what is it?

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 normal red blood cell counts and decreased 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 40 years of age, 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:

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, while for some reason men of about 60 years of age 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 it progresses.

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:

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, erythremia can be observed 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 of them, 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:

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:

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 lower 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 to the point of 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 is a chronic disease in which there is an increase in the number of red cells or red blood cells in the blood. Middle-aged and older people are susceptible to the disease - men are affected several times more often than women. More than half of people experience an increase in the number of platelets and white blood cells.

The occurrence of a disease can be due to several reasons, which separate its types. Primary or polycythemia vera is caused mainly by genetic abnormalities or bone marrow tumors, while secondary polycythemia is caused by external or internal influences. Without proper treatment, it leads to serious complications, the prognosis of which is not always comforting. Thus, the primary form, if therapy is not started in a timely manner, can lead to death over several years of progression, and the outcome of the secondary form depends on the cause of its appearance.

The main symptoms of the disease are attacks of severe dizziness and tinnitus; the person feels as if he is losing consciousness. Treatment uses bloodletting and chemotherapy.

A distinctive feature of this disorder is that it cannot disappear spontaneously and it is also impossible to completely recover from it. The person will need to undergo regular blood tests and be under the supervision of doctors for the rest of his life.

Etiology

The causes of the disease depend on its form and can be caused by various factors. Polycythemia vera occurs when:

hereditary predisposition to production disorders;
genetic failures;
malignant neoplasms in the bone marrow;
the effects of hypoxia (oxygen deficiency) on red cells in the blood.

Secondary polycythemia is caused by:

chronic heart failure;
insufficient supply of blood and oxygen to the kidneys;
climatic conditions. People living in high mountain areas are most susceptible;
oncological tumors of internal organs;
various infectious diseases that cause intoxication of the body;
harmful working conditions, for example, in a mine or at height;
living in polluted cities or near factories;
long-term nicotine abuse;
nation. According to statistics, polycythemia occurs in people of Jewish origin, this is due to genetics.

The disease itself is rare, but polycythemia in newborns is even rarer. The main method of transmission of the disease is through the mother's placenta. The baby's place does not provide sufficient oxygen to the fetus (poor blood circulation).

Varieties

As mentioned above, the disease is divided into several types, which directly depend on the causes of occurrence:

primary or true polycythemia - caused by blood pathologies;
secondary polycythemia, which can be called relative - caused by external and internal pathogens.

Polycythemia vera, in turn, can occur in several stages:

initial, which is characterized by a slight manifestation of symptoms or their complete absence. May last for five years;
expanded. It is divided into two forms - without a malignant effect on the spleen and with its presence. The stage lasts one or two decades;
severe - the formation of cancerous tumors on internal organs, including the liver and spleen, and malignant blood lesions is observed.

Relative polycythemia occurs:

stressful - based on the name, it becomes clear that it occurs when the body is affected by prolonged overexertion, unfavorable working conditions and an unhealthy lifestyle;
false - in which the level of red blood cells and in the blood is within normal limits.

The prognosis of polycythemia vera is considered unfavorable; life expectancy with this disease does not exceed two years, but the chances of a long life increase when used in the treatment of bloodletting. In this case, a person will be able to live fifteen or more years. The prognosis of secondary polycythemia completely depends on the course of the disease, which triggered the process of increasing the number of red cells in the blood.

Symptoms

At the initial stage, polycythemia occurs with virtually no symptoms. It is usually discovered during a random examination or during preventive blood tests. The first symptoms may be mistaken for a common cold or indicate a normal condition in older people. These include:

decreased visual acuity;
severe dizziness and headaches;
noise in ears;
sleep disturbance;
cold tips of the fingers of the extremities.

In the advanced stage, the following symptoms may be observed:

muscle and bone pain;
an increase in the size of the spleen, the volume of the liver changes slightly less frequently;
bleeding gums;
continuous bleeding for quite a long time after tooth extraction;
the appearance of bruises on the skin, the nature of which a person cannot explain.

In addition, specific symptoms of this disease are:

severe itching of the skin, which is characterized by an increase in intensity after taking a bath or shower;
painful burning sensations in the tips of the fingers and toes;
manifestation of veins that were not previously noticeable;
the skin of the neck, hands and face takes on a bright red color;
lips and tongue acquire a bluish tint;
the whites of the eyes become bloodshot;
general weakness of the patient's body.

In newborns, especially twins, symptoms of polycythemia begin to appear within a week after birth. These include:

redness of the baby's skin. The child begins to cry and scream when touched;
significant reduction in body weight;
a large number of red blood cells, leukocytes and platelets are found in the blood;
The volumes of the liver and spleen increase.

These signs can lead to the death of the baby.

Complications

The consequences of ineffective or untimely treatment can be:

release of large quantities of uric acid. Urine becomes concentrated and acquires an unpleasant odor;
education ;
chronic;
occurrence and;
poor circulation, which leads to trophic ulcers on the skin;
hemorrhages in various locations, for example, nose, gums, gastrointestinal tract, etc.

And they are considered the most common causes of death for patients with this disease.

Diagnostics

Polycythemia is very often discovered accidentally during a blood test for completely different reasons. When diagnosing, the doctor must:

carefully review the medical history of the patient and his immediate family;
conduct a thorough examination of the patient;
find out the cause of the disease.

The patient, in turn, must undergo the following examinations:

Treatment of the primary disease is a rather labor-intensive process, which includes influencing tumors and preventing their activity. In drug therapy, the age of the patient plays an important role, because those substances that will help people under fifty years of age will be strictly prohibited for treating patients over seventy.

If the content of red blood cells in the blood is high, the best treatment is bloodletting - during one procedure, the blood volume is reduced by approximately 500 milliliters. Cytopheresis is considered a more modern method of treating polycythemia. The procedure involves filtering the blood. To do this, catheters are inserted into the veins of both arms of the patient, blood enters the machine through one, and after filtration, the purified blood is returned to the other vein. This procedure must be carried out every other day.

For secondary polycythemia, treatment will depend on the underlying disease and the severity of its symptoms.

Prevention

Most causes of polycythemia cannot be prevented, but despite this, there are several preventive measures:

completely stop smoking;
change place of work or residence;
promptly treat diseases that can cause this disorder;
undergo regular preventive examinations at the clinic and take blood tests.

Today we will talk about a blood disease called polycythemia vera. This disease is a pathology in which there is an increased number of red blood cells in the circulating blood. Polycythemia poses a great, sometimes irreversible danger to human life and health, so it is important to recognize the disease by its first signs for timely medical care and competent treatment. Typically, this syndrome is characteristic of people over the age of 50, and is more often diagnosed in males. Let's take a closer look at the disease in all its aspects: etiology, types, diagnosis and main methods of treating polycythemia.

General information about the disease

In modern medicine, polycythemia has several names, for example, Vaquez disease, and it is also sometimes called erythrocytosis. The pathology belongs to the section of chronic leukemia and represents an active increase in the concentration of red blood cells, leukocytes and platelets in the blood; most often, experts classify this disease as a rare type of leukemia. Medical statistics say that polycythemia vera is diagnosed annually in only 5 cases per 1 million patients; the development of pathology is usually typical for older men (from 50 to 65 years).

The most dangerous complications of the disease include the risk of developing thrombosis and hemorrhagic strokes, as well as the transition of polycythemia to the acute stage of myeloid leukemia or to the chronic stage of myeloid leukemia. This disease is characterized by a number of reasons, which we will consider below. All causes of erythremia are divided into two types: primary and secondary.

Causes of the disease

In modern medicine, the root causes of this pathology include the following:

genetic predisposition to increased production of red blood cells;
failures at the genetic level;
cancer of the bone marrow;
Oxygen deprivation also affects increased production of blood cells.

Most often, erythremia has a tumor factor, characterized by damage to stem cells produced in the red bone marrow. The result of the destruction of these cells is an increase in the level of red blood cells, which directly leads to disruption of the functioning of the entire body. The disease is malignant, difficult to diagnose and takes a long time to treat, and not always with a positive effect; complex therapy is due to the fact that no treatment methods can affect a stem cell that has undergone a mutation, which has a high ability to divide. Polycythemia vera is characterized by the presence of plethora, this is due to the fact that the concentration of red blood cells in the vascular bed is increased.

Patients with polycythemia have purplish-red skin, and patients often complain of itchy skin.

Experts include the following factors as secondary causes of the disease:

obstructive pulmonary pathologies;
pulmonary hypertension;
chronic heart failure;
there is not enough oxygen supply to the kidneys;
a sharp change in climate, and the development of this syndrome is typical for the population living in high mountain areas;
various infections leading to high intoxication of the body;
harmful working conditions, especially for work carried out at height;
the disease also affects people living in environmentally polluted areas, or in close proximity to industries;
excessive smoking;
experts have revealed that a high risk of developing polycythemia is typical for people with Jewish roots, this is due to the genetic characteristics of the function of the red bone marrow;
sleep apnea;
Hypoventilation syndromes lead to polycythemia.

All these factors lead to the fact that hemoglobin is endowed with the ability to actively absorb oxygen, with virtually no return to the tissues of internal organs, which, accordingly, leads to the active production of red blood cells.

It is worth noting that some cancers can also provoke the development of erythremia, for example, tumors of the following organs affect the production of red blood cells:

liver;
kidney;
adrenal glands;
uterus.

Some kidney cysts and obstruction of this organ can increase the secretion of blood cells, leading to the development of polycythemia. Polycythemia sometimes occurs in newborns, this disease is transmitted through the maternal placenta, and there is insufficient oxygen supply to the fetus, as a result of which pathology develops. Next, we will consider the course of polycythemia, its symptoms and treatment, what are the complications of polycythemia disease?

Symptoms of polycythemia

This disease is dangerous because polycythemia vera at the initial stage is practically asymptomatic, the patient does not have any complaints about deteriorating health. Most often, pathology is detected during a blood test; sometimes the first “calls” of polycythemia are associated with colds or simply with a general decrease in performance in older people.

The main signs of erythrocytosis include:

When the pathology enters an advanced stage, the following may be observed with polycythemia:

muscle and bone pain;
Ultrasound often reveals an enlarged spleen or changes in the contours of the liver;
bleeding gums;
for example, when a tooth is removed, the bleeding may not stop for a long time;
Patients often discover new bruises on their body, the origin of which they cannot explain.

Doctors also identify specific symptoms of this disease:

severe skin itching, which increases after taking water procedures;
burning sensation in fingertips;
the appearance of spider veins;
the skin of the face, neck and chest may take on a purplish-red hue;
lips and tongue, on the contrary, may have a bluish tint;
the whites of the eyes tend to turn red;
the patient constantly feels weak.

If we talk about a disease that affects newborns, polycythemia develops a few days after birth. Most often, the pathology is diagnosed in twins; the main signs include:

the baby's skin turns red;
when touching the skin, the child experiences unpleasant sensations and therefore begins to cry;
the baby is born with low weight;
a blood test reveals an increased level of leukocytes, platelets and red blood cells;
Ultrasound shows changes in the size of the liver and spleen.

It is worth noting that if polycythemia is not diagnosed in a timely manner, the development of the disease can be missed, and the lack of therapy can lead to the death of the newborn.

Diagnosis of the disease

As mentioned above, most often polycythemia vera is detected during a preventive blood test. Experts diagnose erythrocytosis if blood tests show levels above normal:

hemoglobin level increased to 240 g/l;
the level of red blood cells is increased to 7.5x10 12 /l;
leukocyte level increased to 12x10 9 /l;
platelet level increased to 400x10 9 /l.

To study the function of red bone marrow, a trephine biopsy procedure is used, because it is the disruption of the production of stem cells that provokes the development of polycythemia. To exclude other diseases, specialists can use studies such as ultrasound, urinalysis, FGDS, ultrasound, etc. The patient is also prescribed consultations with specialized specialists: neurologist, cardiologist, urologist, etc. If a patient is diagnosed with polycythemia, what is the treatment for this disease, consider the main methods.

Treatment of erythrocytosis

This disease is one of those types of pathology that are treated with myelosuppressive drugs. Polycythemia vera is also treated using bloodletting methods; this type of therapy can be prescribed to patients who have not reached 45 years of age. The essence of the procedure is that up to 500 ml of blood per day is taken from the patient; elderly people with polycythemia also undergo phlebotomy, but no more than 250 ml of blood is taken per day.

If a patient with this disease experiences severe skin itching and hypermetabolic syndrome, then specialists prescribe a myelosuppressive method of treating polycythemia vera. It includes the following drugs:

radioactive phosphorus;
anagrelide;
interferon;
Hydroxyurea.

In case of remission with polycythemia, the patient is prescribed repeated blood tests no more than once every 14 days, then the study is carried out once a month. When the level of red blood cells returns to normal, the drugs begin to be gradually discontinued, drug therapy alternates with a rest from the drugs, and the course of the disease is strictly monitored. But it is worth noting that the use of myelosuppressive drugs for polycythemia can lead to the development of leukemia, so specialists prescribe them after lengthy detailed studies. Sometimes side effects such as skin ulcers, gastrointestinal disturbances, and fever occur; if this occurs, the medications are immediately discontinued.

The patient should also take Aspirin daily to reduce the risk of thrombosis, which often complicates the course of this disease.

Another procedure for a patient with polycythemia is erythrocytophoresis, which consists of a device pumping out the patient’s blood while simultaneously removing excess red blood cells from it. Afterwards, in order to restore the previous volume, the patient is infused with saline solution. This procedure is a modern type of bloodletting, but it is carried out no more than once every 2-3 years. Treatment of polycythemia will not protect the patient from possible complications that may develop against the background of this pathology.

Complications of polycythemia

Experts note the following complications that accompany the development of polycythemia vera:

urine may acquire a strong and unpleasant odor;
often patients with polycythemia suffer from gout;
with polycythemia, kidney stones can form;
renal colic becomes chronic;
erythrocytosis is often accompanied by a stomach or duodenal ulcer;
impaired circulatory function can lead to the formation of skin ulcers;
often this disease provokes thrombosis;
bleeding gums, frequent nosebleeds.

Preventive measures

The development of a disease such as polycythemia can be prevented; it is necessary to adhere to the following preventive measures:

completely abandon bad habits, especially smoking cigarettes, it is nicotine that harms the body and provokes this disease;
if the area is unfavorable for living, then it is better to change your place of residence;
the same applies to work;
regularly take preventive blood tests, which can show whether the patient has polycythemia;
It is necessary to take a responsible approach to your diet, it is better to limit your meat consumption, include in your diet those foods that stimulate the function of hematopoiesis, and give preference to fermented milk and plant products.

Remember that timely diagnosis and proper treatment of polycythemia can prevent the development of complications with this disease, but, unfortunately, with this disease there is no guarantee of a complete cure.

In contact with

Polycythemia vera (primary polycythemia) is an idiopathic chronic myeloproliferative disease, which is characterized by an increase in the number of red blood cells (erythrocytosis), an increase in hematocrit and blood viscosity, which can lead to the development of thrombosis. With this disease, hepatosplenomegaly may develop. In order to establish a diagnosis, it is necessary to determine the number of red blood cells and exclude other causes of erythrocytosis. Treatment consists of periodic bloodletting, and in some cases myelosuppressive drugs are used.

ICD-10 code

D45 Polycythemia vera

Epidemiology

Polycythemia vera (PV) is more common than other myeloproliferative diseases; the incidence is 5 cases per 1,000,000 people, men are more likely to get sick (ratio about 1.4:1). The average age of patients at the time of diagnosis is 60 years (from 15 to 90 years; this disease is rare in children); at the time of onset of the disease, 5% of patients are under 40 years of age.

Causes of polycythemia vera

Pathogenesis

Polycythemia vera is characterized by increased proliferation of all cell lineages, including erythrocyte, leukocyte and platelet lineages. An isolated increase in erythrocyte proliferation is termed “primary erythrocytosis.” In polycythemia vera, increased red blood cell production occurs independently of erythropoietin (EPO). Extramedullary hematopoiesis is observed in the spleen, liver and other sites with the potential for hematopoiesis. The life cycle of peripheral blood cells is shortened. In the later stages of the disease, approximately 25% of patients have reduced erythrocyte lifespan and inadequate hematopoiesis. Anemia, thrombocytopenia, and myelofibrosis may develop; precursors of erythrocytes and leukocytes can enter the systemic circulation. Depending on the treatment, the frequency of transformation of the disease into acute leukemia varies from 1.5 to 10%.

With polycythemia vera, the volume and viscosity of the blood increases, which creates a predisposition to thrombosis. Because platelet function is impaired, the risk of bleeding is increased. A sharp intensification of metabolism is possible. A shortened cell life cycle leads to hyperuricemia.

Symptoms of polycythemia vera

Polycythemia vera is often asymptomatic. Sometimes increased blood volume and viscosity are accompanied by weakness, headaches, dizziness, visual disturbances, fatigue and shortness of breath. Itching is common, especially after a hot shower/bath. Facial hyperemia and congestion of retinal veins may be observed. The lower extremities may be hyperemic, hot to the touch and painful, and digital ischemia (erythromelalgia) is sometimes observed. An enlarged liver is characteristic; in addition, 75% of patients also exhibit splenomegaly, which can be very pronounced.

Thrombosis can occur in various vessels, resulting in possible strokes, transient ischemic attacks, deep vein thrombosis, myocardial infarction, retinal artery or vein occlusions, splenic infarctions, or Budd-Chiari syndrome.

Bleeding (usually in the gastrointestinal tract) occurs in 10-20% of patients.

Complications and consequences

Diagnosis of polycythemia vera

IP must be excluded in patients with characteristic symptoms (especially in the presence of Budd-Chiari syndrome), but the first suspicion of this disease often arises when abnormalities in the general blood test are detected (for example, with Ht > 54% in men and > 49% in women ). The number of neutrophils and platelets may be increased, and the morphological structure of these cells may be disrupted. Since PV is a panmyelosis, the diagnosis is not in doubt in the case of proliferation of all 3 peripheral blood lineages in combination with splenomegaly in the absence of reasons for secondary erythrocytosis. However, all of the above changes are not always present. In the presence of myelofibrosis, anemia and thrombocytopenia, as well as massive splenomegaly, may develop. In the peripheral blood, precursors of leukocytes and erythrocytes are found, pronounced anisocytosis and poikilocytosis are observed, microcytes, elliptocytes and drop-shaped cells are present. A bone marrow examination is usually performed and reveals panmyelosis, enlarged and aggregated megakaryocytes, and (sometimes) reticulin fibers. Cytogenetic analysis of the bone marrow sometimes reveals an abnormal clone characteristic of myeloproliferative syndrome.

Since Ht reflects the proportion of red blood cells per unit volume of whole blood, an increase in Ht level can also be caused by a decrease in plasma volume (relative or false erythrocytosis, also called stress polycythemia or Gaisbeck syndrome). As one of the first tests that helps distinguish polycythemia vera from increased hematocrit due to hypovolemia, it was proposed to determine the number of red blood cells. It should be taken into account that in polycythemia vera the plasma volume may also be increased, especially in the presence of splenomegaly, which makes Ht falsely normal despite the presence of erythrocytosis. Thus, for the diagnosis of true erythrocytosis, an increase in the erythrocyte mass is necessary. When determining the erythrocyte mass using erythrocytes labeled with radioactive chromium (51 Cr), the erythrocyte mass is more than 36 ml/kg in men (norm 28.3 ± 2.8 ml/kg) and more than 32 ml/kg in women (norm 25. 4 + 2.6 ml/kg) is considered pathological. Unfortunately, many laboratories do not perform blood volume tests.

Diagnostic criteria for polycythemia vera

Erythrocytosis, absence of secondary polycythemia and characteristic bone marrow changes (panmyelosis, enlarged megakaryocytes with the presence of aggregates) S combined with any of the following factors:

Splenomegaly.
Plasma erythropoietin level
Platelet count > 400,000/µl.
Positive endogenous colonies.
Neutrophil count > 10,000/µl in the absence of infection.
Clonal cytogenetic abnormalities in the bone marrow

It is necessary to think about the causes of erythrocytosis (of which there are quite a few). The most common secondary erythrocytosis due to hypoxia (HbO 2 concentration in arterial blood

The level of serum EPO in patients with polycythemia vera is usually reduced or normal, in erythrocytosis caused by hypoxia - increased, in tumor-associated erythrocytosis - normal or increased. Patients with elevated EPO levels or microhematuria should be evaluated with CT to look for renal pathology or other EPO-secreting tumors leading to secondary erythrocytosis. Unlike bone marrow from healthy individuals, cultured bone marrow from patients with polycythemia vera can form red blood cell colonies without the addition of EPO (ie, positive endogenous colonies).

Although polycythemia vera may cause a variety of abnormal other laboratory tests, most are unnecessary: vitamin B12 levels and B12-binding capacity are often elevated, but these tests are not cost-effective. A bone marrow biopsy is also usually not necessary: when performed, it usually reveals hyperplasia of all blood lines, accumulations of megakaryocytes, decreased iron stores (best assessed in bone marrow aspirate) and increased reticulin levels. Hyperuricemia and hyperuricosuria occur in more than 30% of patients. Recently, new diagnostic tests have been proposed: detection of increased expression of the PRV-1 gene in leukocytes and decreased expression of C-Mpl (receptor for thrombopoietin) on megakaryocytes and platelets.

Treatment of polycythemia vera

Since polycythemia vera is the only form of erythrocytosis for which myelosuppressive therapy can be indicated, it is very important to make an accurate diagnosis. Therapy should be carried out individually, taking into account the age, gender, general condition of the patient, clinical manifestations of the disease and hematological parameters.

Phlebotomy. Phlebotomy reduces the risk of thrombosis, improves symptoms and may be the only method of therapy. Bloodletting is the therapy of choice in women of childbearing age and patients under 40 years of age, as it does not have a mutagenic effect. Typically, the indication for phlebotomy is an Ht level greater than 45% in men and greater than 42% in women. At the beginning of therapy, 300-500 ml of blood is exfused every other day. A smaller volume of exfusions (200-300 ml twice a week) is performed in elderly patients, as well as patients with concomitant cardiac and cerebrovascular pathology. Once the hematocrit has been reduced below the threshold value, it should be determined once a month and maintained at this level with additional bloodletting (as needed). Before elective surgical interventions, the red blood cell count should be reduced using phlebotomy. If necessary, intravascular volume can be maintained by infusions of crystal oid or colloid solutions.

Aspirin (at a dose of 81-100 mg orally 1 time per day) reduces the incidence of thrombotic complications. Patients undergoing phlebotomy alone or phlebotomy in combination with myelosuppressive therapy should take aspirin unless contraindicated.

Myelosuppressive therapy. Myelosuppressive therapy may be indicated in patients with a platelet count greater than 1/μl, with a feeling of discomfort due to enlargement of visceral organs, with the presence of thrombosis despite Ht less than 45%, symptoms of hypermetabolism or uncontrolled itching, as well as patients over 60 years of age or patients with cardiovascular disease. vascular diseases that do not tolerate bloodletting well.

Radioactive phosphorus (32 P) is effective in 80-90% of cases. The duration of remission ranges from 6 months to several years. P is well tolerated, and if the disease is stable, the number of follow-up visits to the clinic can be reduced. However, P therapy is associated with an increased rate of leukemic transformation, and when leukemia develops after phosphorus treatment, it is often resistant to induction chemotherapy. Thus, P therapy requires careful patient selection (eg, only used in patients likely to die from other disorders within 5 years).

Hydroxyurea, an inhibitor of the enzyme ribonucleoside diphosphate reductase, has long been used for myelosuppression, and its leukemic potential continues to be studied. Ht is reduced to less than 45% through phlebotomy, after which patients receive hydroxyurea at a dose of 20-30 mg/kg orally once daily. Patients are monitored weekly with a complete blood count. When a stable condition is achieved, the interval between control blood tests is extended to 2 weeks, and then to 4 weeks. When the level of leukocytes decreases to less than 4000/μl or platelets less than 100,000/μl, hydroxyurea is suspended, and when the levels are normalized, it is resumed at a dose reduced by 50%. In patients with unsatisfactory disease control, requiring frequent phlebotomies, or patients with thrombocytosis (platelet level > 600,000/μl), the dose of the drug may be increased by 5 mg/kg monthly. Acute toxicity is rare, and rash, GI symptoms, fever, nail changes, and skin ulceration may occasionally occur and may require discontinuation of hydroxyurea.

Interferon a2b was used in cases where blood cell levels could not be controlled with hydroxyurea or when the drug was poorly tolerated. The usual starting dose is 3 units subcutaneously 3 times a week.

Anagrelide is a new drug that has a more specific effect on megakaryocyte proliferation than other drugs and is used to reduce platelet levels in patients with myeloproliferative diseases. The safety of this drug during long-term use is currently being studied, but according to available data, it does not contribute to the progression of the disease to acute leukemia. When using the drug, vasodilation may develop with headaches, palpitations and fluid retention. To minimize these side effects, the drug is started at an initial dose of 0.5 mg twice daily, then the dose is increased weekly by 0.5 mg until the platelet count decreases to less than 450,000/μl or until the dose is 5 mg twice daily. The average dose of the drug is 2 mg/day.

Most alkylating agents and, to a lesser extent, radiophosphorus (formerly used for myelosuppression) have leukemoid effects and should be avoided.

Treatment of complications of polycythemia vera

For hyperuricemia, if it is accompanied by symptoms or if the patient is simultaneously receiving myelosuppressive therapy, it is necessary to take allopurinol 300 mg orally once a day. Itching may improve after taking antihistamines, but this does not always happen; The most effective treatment for this complication is often myelosuppressive therapy. To relieve itching, cholestyramine 4 g orally three times a day, cyproheptadine 4 mg orally 3-4 times a day, cimetidine 300 mg orally 4 times a day, paroxetine 20-40 mg orally once a day can also be used. After the bath, the skin must be dried carefully. Aspirin relieves the symptoms of erythromelalgia. Elective surgical interventions for polycythemia vera should be performed only after the Ht level has decreased

Polycythemia is a chronic disease in which the amount of red blood cells (erythrocytes) in the blood increases. Also, with this pathology, in 70% of patients the number of platelets and leukocytes changes upward.

The disease is not very common - no more than five cases are registered annually per one million people. Most often, polycythemia disease develops in middle-aged and elderly people. According to statistics, males suffer from this pathology five times more often than women. Today we will take a closer look at a condition such as polycythemia; the symptoms and treatment of the pathology will be described below.

Reasons for the development of the disease

Polycythemia is not a malignant disease. To date, the exact causes of the disease are unknown. It is believed that the development of pathology is caused by a mutation of a special enzyme in the bone marrow. Gene changes lead to excessive division and growth of all blood cells, and especially red blood cells.

Classification of the disease

There are two groups of the disease:

True polycythemia, or Vaquez's disease, which in turn is divided into primary (that is, acts as an independent disease) and secondary (secondary polycythemia develops due to chronic lung diseases, tumors, hydronephrosis, and elevation).

Relative polycythemia (stress or false) - with this condition, the level of red blood cells remains within normal limits.

Polycythemia: symptoms of the disease

Very often the disease is asymptomatic. Sometimes, as a result of an examination for completely different reasons, polycythemia vera may be accidentally detected. We will consider the symptoms that you should pay attention to below.

Dilatation of saphenous veins

With polycythemia, dilated saphenous veins appear on the skin, most often in the neck area. With this pathology, the skin becomes reddish-cherry in color, this is especially noticeable on open areas of the body - neck, hands, face. The mucous membrane of the lips and tongue has a bluish-red color, the whites of the eyes seem to be bloodshot.

Such changes are caused by the overflow of blood, rich in red blood cells, of all surface vessels and a slowdown in its rheological properties (speed of movement), as a result of which the main part of hemoglobin (red pigment) passes into a reduced form (that is, undergoes chemical changes) and changes color.

Itchy skin

Almost half of patients suffering from polycythemia experience severe itching, especially after taking a warm bath. This phenomenon acts as a specific sign of polycythemia vera. Itching occurs due to the release of active substances into the blood, in particular histamine, which is able to expand the skin capillaries, which leads to increased blood circulation in them and the appearance of specific sensations.

Erythromelalagia

This phenomenon is characterized by short-term severe pain in the area of the fingertips. They are provoked by an increase in the level of platelets in the small vessels of the hand, as a result of which numerous microthrombi are formed, clogging the arterioles and blocking the flow of blood to the tissues of the fingers. External signs of this condition are redness and the appearance of bluish spots on the skin. For this purpose, it is recommended to take aspirin.

Splenomegaly (enlarged spleen)

In addition to the spleen, the liver, or rather its size, may also change. These organs are directly involved in the formation and destruction of blood cells. An increase in the concentration of the latter leads to an increase in the size of the liver and spleen.

and stomach

This serious surgical pathology develops as a result of thrombosis of small vessels of the mucous membrane of the digestive tract. The acute result is necrosis (necrosis) of a section of the organ wall and the formation of an ulcerative defect in its place. In addition, the stomach's resistance to Helicobacter (a microorganism that causes gastritis and ulcers) is reduced.

Blood clots in large vessels

The veins of the lower extremities are more susceptible to this pathology. from the vessel wall, can, bypassing the heart, penetrate into the pulmonary circulation (lungs) and provoke PE (pulmonary embolism) - a condition incompatible with life.

Bleeding gums

Despite the fact that the number of platelets in the peripheral blood changes and its coagulability increases, gingival bleeding may occur with polycythemia.

Gout

When the level of uric acid increases, its salts are deposited in various joints and provoke a sharp pain syndrome.

Pain in the limbs. This symptom causes damage to the arteries of the legs, their narrowing and, as a result, poor circulation. This pathology is called “obliterating endarteritis”
Pain in flat bones. Increased activity of the bone marrow (the site of blood cell development) provokes sensitivity of flat bones to mechanical stress.

Deterioration of the general condition of the body

With a disease such as polycythemia, the symptoms may be similar to those of other pathologies (for example, anemia): headaches, constant fatigue, tinnitus, dizziness, flickering “goosebumps” before the eyes, shortness of breath. An increase in the viscosity of the blood activates the compensatory vascular response As a result, blood pressure increases. With this pathology, complications are often observed in the form of heart failure and microcardiosclerosis (replacement of the muscle tissue of the heart with connective tissue that fills the defect, but does not perform the necessary functions).

Diagnostics

Polycythemia is detected by the results of a general blood test, which reveals:

increased number of red cells from 6.5 to 7.5.10^12/l;

increased hemoglobin level - up to 240 g/l;

the total volume of erythrocytes (TEV) exceeds 52%.

Since the number of red blood cells cannot be calculated based on measurements of the above values, radionuclide diagnostics are used for measurement. If the mass of red blood cells exceeds 36 ml/kg in men and 32 ml/kg in women, then this reliably indicates the presence of Vaquez disease.

With polycythemia, the morphology of red blood cells is preserved, that is, they do not change their normal shape and size. However, with the development of anemia as a result of increased bleeding or frequent bloodletting, microcytosis (a decrease in red blood cells) is observed.

Polycythemia: treatment

Bloodletting has a good therapeutic effect. It is recommended to remove 200-300 ml of blood weekly until the TEC level drops to the desired value. If there are contraindications for bloodletting, the percentage of red blood cells can be restored by diluting the blood by adding a liquid part to it (high molecular weight solutions are administered intravenously).

It should be borne in mind that quite often bloodletting leads to the development of iron deficiency anemia, in which corresponding symptoms and an increase in platelet counts are observed.

For a disease such as polycythemia vera, treatment involves following a certain diet. It is recommended to limit the consumption of meat and fish products, as they contain high amounts of protein, which actively stimulates the activity of the hematopoietic organs. You should also avoid fatty foods. Cholesterol contributes to the development of atherosclerosis, resulting in blood clots, which are already formed in large quantities in people suffering from polycythemia.

Also, if polycythemia is diagnosed, treatment may include chemotherapy. It is used for increased thrombocytosis and severe itching. As a rule, this is a “cytoreductive agent” (the drug “Hydroxycarbamide”).

Until recently, injections of radioactive isotopes (usually phosphorus-32) were used to suppress bone marrow. Today, such treatment is increasingly being abandoned due to the high rate of leukemic transformation.

Therapy also includes injections of interferon; in the treatment of secondary thrombocytosis, the drug Anagrelide is used.

For this pathology, it is very rarely performed since polycythemia is a disease that is not fatal, provided, of course, adequate treatment and constant monitoring.

Polycythemia in newborns

Polycythemia is a pathology, the symptoms of which can be found in newborns. This disease is a response of the baby’s body to hypoxia, which could have been provoked. To correct hypoxia, the baby’s body begins to synthesize a large number of red blood cells.

In addition to the respiratory condition, newborns can also develop polycythemia vera. Twins are especially at risk of this risk.

Polycythemia in a newborn develops in the first weeks of life, its first manifestations are an increase in hematocrit (up to 60%) and a significant increase in hemoglobin levels.

Neonatal polycythemia has several stages: initial, proliferation and depletion. Let's briefly describe them.

The initial stage of the disease has virtually no clinical manifestations. Polycythemia in a child can be detected at this stage only by examining peripheral blood parameters: hematocrit, hemoglobin and red blood cell level.

At the stage of proliferation, an enlargement of the liver and spleen develops. Plethoric phenomena are observed: the skin acquires a characteristic “plethoric-red” hue, the child shows anxiety when touching the skin. Plethoric syndrome is complemented by thrombosis. In the tests, changes in the number of red blood cells, platelets and leukocyte shifts are observed. The counts of all blood cells may also increase, a phenomenon called “panmyelosis.”

The exhaustion stage is characterized by significant loss of body weight, asthenia and exhaustion.

For a newborn, such clinical changes are extremely severe and can provoke irreversible changes and subsequent death. Polycythemia can cause a disruption in the production of a certain type of white blood cell, which is responsible for the body's immune system. As a result, the baby develops severe bacterial infections, ultimately leading to death.

After reading this article, you learned more about such a pathology as polycythemia. We have reviewed the symptoms and treatment in as much detail as possible. We hope you find the information provided useful. Take care of yourself and be healthy!