Polycythemia. Symptoms and treatment. Erythremia (Vaquez disease, polycythemia vera) Polycythemia symptoms treatment

Treatment of the disease is quite complex; it consists of normalizing the function of the red bone marrow and improving blood composition. Without proper therapy, the patient develops severe complications, often incompatible with life.

Development mechanism

During erythremia, the body produces increased production of red blood cells - erythrocytes, and accordingly, the amount of hemoglobin increases. Red blood cells are synthesized by red bone marrow tissue. A necessary condition for this process is the participation of the hormone erythropoietin, which is produced by kidney and liver cells. Primary or true polycythemia is a consequence of impaired production of this hormone and is very rare in patients. In this case, a benign tumor forms in the bone marrow, where the main catalyst is the rapid proliferation of immature red blood cells.

Unlike the primary form, secondary erythremia is caused by various pathologies in humans, characterized by blood thickening.

Causes of the disease

True Vaquez disease is a rare type that can be transmitted through an autosomal recessive mode of inheritance. That is, a violation of the production of red blood cells occurs when one recessive gene is transmitted to the child from the mother and father. In this case, tumor growth is associated with the production of cells that do not correspond in size and shape to normal red blood cells. These are the so-called progenitor cells.

Secondary polycythemia occurs under the influence of such provoking factors:

dehydration of the body, which is caused by severe vomiting, diarrhea and other conditions;
lack of oxygen. This occurs at high body temperature, hot climate, being in the mountains;
lung diseases (bronchitis, pneumonia, emphysema);
increased pulmonary resistance;
heart failure;
apnea syndrome;
impaired blood supply to the kidneys;
neoplasms in the uterus, kidneys, adrenal glands, liver.

The lack of oxygen and water forces the body to make up for this deficiency through increased synthesis of red blood cells. At the same time, red blood cells continue to fully perform their functions, their size and shape correspond to the norm. Reasons for increased production of the hormone erythropoietin also include kidney cysts, long-term smoking and some other factors.

Lung and heart diseases are becoming common causes of secondary erythremia

Stages of development

Signs of polycythemia do not appear immediately. The above-described manifestations may take years to develop. There are three stages of pathology.

First stage

Often at this stage the patient does not even suspect that he is developing the disease. General health is normal. Symptoms are mild or absent. Often, a blood disorder is discovered by chance during preventive medical examinations or when going to the hospital for another reason. The total duration of this stage is approximately 5 years.

Period of exacerbation of all symptoms

This period occurs in two stages. In the first, myeloid metaplasia of the spleen is absent, but the clinical picture of Vaquez disease is clearly visible. Duration ranges from 10 to 15 years.

The second stage is characterized by pronounced myeloid metaplasia of the spleen, which greatly increases in size. In addition, there is an enlargement of the liver and an exacerbation of all symptoms of erythremia.

Terminal stage

Here there are manifestations of the malignant course of the pathology. A person complains of pain and discomfort throughout the body. Leukemia develops after the cells lose their ability to differentiate, causing erythremia to develop into acute leukemia.

The course of this stage is very complex. The following violations are present:

severe bleeding;
serious infectious and inflammatory processes;
splenic rupture;
liver failure and others.

Due to a severe decrease in immune defense, treatment of developing diseases becomes difficult or impossible. Most often, polycythemia is fatal.

Erythremia in newborns

Vaquez disease in newborns is most often associated with hypoxia, and oxygen deficiency can occur both in utero and after birth. We talk about intrauterine hypoxia when the following conditions develop:

fetoplacental insufficiency;
pathologies of placental vessels;
affected by tuberculosis;
smoking during pregnancy;
heart defects in a pregnant woman;
late tying of the umbilical cord, which leads to hypervolemia of the child.

The pathology is often congenital

After the baby is born, cases of the development of polycythemia may be recorded due to disruption of the heart and blood vessels, pulmonary apparatus, and kidney and liver diseases.

Oncology or not

Erythremia is a rather rare condition that mainly affects older men; it is diagnosed in patients of various age groups and even in newborns. More often we are talking about a secondary type of pathology, provoked by various reasons.

When most patients hear the diagnosis of leukemia, they understand it as a blood cancer. Is it so? The fact is that polycythemia has a benign course, and only over the years it turns into malignant, but that’s not all. Cancers involve neoplasms of epithelial tissue, and erythremia is a tumor of hematopoietic tissue.

The progression of the condition always depends on the treatment provided and the individual characteristics of the body.

How does the pathology proceed?

Vaquez's disease is characterized by such a main symptom as “plethora syndrome”. This concept implies a condition in which the amount of all formed elements in the blood increases. As a result, the patient experiences the following symptoms:

headaches alternating with dizziness;
itchy skin that occurs due to increased synthesis of histamine and prostaglandins produced by mast cells. Sometimes the itching is very strong, it is quite difficult to endure, scratches appear on the body, and a bacterial infection is often associated. Often, itching intensifies upon contact with water or other irritants;
erythromelalgia - burning acute pain in the area of the fingertips, accompanied by severe redness of the hands or their blueness, swelling;
soreness in the arms and legs;
periodic rashes on the body in the form of urticaria.

In addition, a person suffers from chronic fatigue, decreased quality of sleep, increased sweating, decreased concentration of memory and attention, hearing and visual disorders.

With the further development of pathology, the development of new signs is noted. Due to the expansion of capillaries, redness of the skin of the face and mucous membrane of the mouth appears. Often there are pain sensations in the heart area, which are similar to the symptoms of angina pectoris. This happens due to an increase in the size of the spleen due to the increased load on the organ. After all, it serves as a depot for platelets and red blood cells. In addition to the spleen, there is an increase in the size of the liver.

Itchy skin is a common symptom of polycythemia.

Another characteristic symptom is difficulty urinating and pain in the lumbar region. This is explained by the development of urolithiasis, which occurs due to a violation of the composition of the blood.

Due to the proliferation of bone marrow, patients often complain of joint pain, and gout is diagnosed. Manifestations of the disease also include intestinal and nosebleeds.

On the part of the blood vessels, there is a tendency to thrombosis, varicose veins, and thrombophlebitis. Less common is thrombosis of the coronary arteries and such a serious complication as myocardial infarction.

In almost 50% of cases, persistent arterial hypertension is observed. The patient suffers from frequent viral and bacterial infections, which is explained by the suppression of immunological reactions by red blood cells, which begin to behave as suppressors.

Diagnostics

Polycythemia vera is diagnosed in the laboratory using various tests. These include:

general blood analysis. In this case, a significant increase in the concentration of red blood cells and hemoglobin is detected. Sometimes the number of red blood cells reaches 10 9/l. The erythrocyte sedimentation rate in the true form of pathology is always reduced, often reduced to zero;
blood chemistry. This test allows you to determine the level of uric acid and phosphatase. Vaquez's disease is characterized by an increase in uric acid, which indicates the development of gout, which develops as a complication of erythremia;
radiological examination method. This technique uses radioactive chromium to detect an increase in the number of circulating red blood cells;
trepanobiopsy or histological evaluation of the ilium material. The method is highly informative and often confirms the diagnosis of polycythemia;
sternal puncture. This test is done by examining bone marrow from the breastbone. In this case, hyperplasia of all germs is detected, megakaryocyte and red ones predominate.

A blood test can help make a diagnosis.

During diagnosis, the normal size of red blood cells is often discovered, that is, they do not change their shape and size. The severity of the pathology is determined by the concentration of platelets in the blood. It is believed that the more there are, the more severe the disease.

Treatment methods

To choose a treatment strategy for erythremia, it is necessary to accurately determine which disease acted as the root cause. In addition, it is important to find out whether polycythemia is primary or secondary. For this purpose, the necessary laboratory tests are carried out.

True erythremia requires treatment of tumors in the bone marrow, and the secondary type requires getting rid of the root cause, that is, the disease that provoked a violation of the blood composition.

With true erythremia, treatment requires a lot of effort from doctors, which includes eliminating tumors in the bone marrow and preventing their reappearance. Here, an important role is played by the patient’s age, his individual characteristics, and concomitant pathologies. Not all medications are approved for older people, which significantly complicates the therapy process.

Bloodletting is considered an effective method of treatment. During the session, the blood volume decreases by approximately 500 ml. This allows you to reduce the concentration of platelets and thin the blood.

Cytopheresis is often used for treatment. This method allows you to filter the blood. The patient is given 2 catheters in one and the other arm, through one the blood enters a special device, and through the second it returns in a purified state. Sessions are held every other day.

The method of treatment is selected taking into account the type of disease and the severity of its course.

Secondary Vaquez disease is treated by getting rid of the pathology that caused polycythemia. This is, as a rule, a violation of the functioning of the lungs, heart, dehydration, etc.

The role of diet

Normalization of physical activity and diet are important aspects during the treatment of bone marrow disease. The patient should give up intense physical activity and ensure quality rest and sleep.

At the initial stage, the patient is prescribed a diet that excludes foods that promote hematopoiesis. These include:

With further development of the disease, the doctor usually prescribes table No. 6 to the patient. This diet consists of a complete abstinence from fish, meat, legumes and dishes containing oxalic acid. Usually this table is indicated for gout and some other diseases.

Prevention

Prevention does not affect the development of true erythremia, since the pathology is congenital. To prevent a secondary type of disease, you should adhere to the following measures:

to refuse from bad habits;
drink plenty of fluids to prevent dehydration;
promptly treat acute and chronic diseases;
control body weight and avoid excess weight;
devote enough time to physical activity, which will ensure normal metabolic processes;
take medications only as prescribed by a specialist;
Eat right, avoid junk food.

The best prevention is a healthy lifestyle

These simple rules will help keep the body in good shape, prevent many dangerous complications and the development of Vaquez disease.

Does folk treatment help?

Many patients with polycythemia are interested in the question of whether it is possible to improve blood composition using folk recipes? The fact is that Vaquez’s disease is a serious pathology, and without timely drug treatment, traditional methods will be absolutely ineffective. The main goal of drug therapy is to maximize the period of remission and delay the transition of erythremia to the third stage.

Even if there is a lull, the patient must remember that the pathology can recur at any time and make every effort to prevent this process. Throughout his life, he must be under medical supervision, discuss his condition with his attending physician, and undergo all necessary tests.

In folk medicine, indeed, there are a lot of recipes designed to improve blood composition, but they should not be used to increase hemoglobin and thin the blood. To date, no medicinal herbs that could slow down the progression of the pathology have been found. Therefore, you should not risk your health and self-medicate.

Prognosis for the patient

Vaquez disease is a complex disease, and in order to restore the function of the red bone marrow, it is necessary to have certain knowledge that only doctors possess. It is necessary to influence the hematopoietic system competently, only with the help of the correct choice of medications. If all the rules are followed and timely treatment, the prognosis for the patient is quite favorable, and the third stage can be postponed for many years.

Polycythemia

Polycythemia (synonymous with Vaquez disease) is a chronic disease of the hematopoietic system, characterized by a persistent increase in the number of red blood cells, total blood volume, an enlarged spleen and increased production in the bone marrow of not only red blood cells, but also leukocytes and platelets.

Polycythemia belongs to the group of leukemias. Pathoanatomically, a sharp congestion of the internal organs is revealed, often vascular blood clots, heart attacks, and hemorrhages. In the bone marrow, the phenomenon of hyperplasia (increase in cellular elements) of the erythroblastic germ, in the diaphysis of tubular bones - the transformation of fatty bone marrow into red.

Polycythemia develops gradually and has a progressive course. Clinically manifested by dark red skin color with a cyanotic tint, congestion of the mucous membranes with possible bleeding from the gums, stomach, intestines, uterus, enlarged spleen and liver, hypertension. In the blood, the content of red blood cells (-0), hemoglobin (20-23 g) is increased, ROE is slowed down to 1 mm in 1 or even 2 hours.

The course of the process is long, the prognosis worsens if thrombosis of blood vessels of vital organs develops.

Treatment is in a hospital setting with repeated bloodletting, radioactive phosphorus, cytostatic drugs (myelosan, imiphos, myelobromol).

Polycythemia vera, vera (polycythaemia, rubra, vera; from the Greek poly - many, kytos - cell and haima - blood; synonym: erythremia, Vaquez's disease) is a chronic disease of the hematopoietic apparatus of unknown etiology, characterized by a persistent increase in the number of red blood cells and total blood volume with expansion of the bloodstream, enlargement of the spleen and increased activity of the bone marrow, and the hyperplastic process concerns not only erythropoiesis, but also leuko- and thrombocytopoiesis.

Recently, the neoplastic theory of pathogenesis has been established. Polycythemia is considered an independent disease and belongs to the group of myeloproliferative leukemias, considered as chronic erythromyelosis (see) with a predominant increase in the function of erythropoiesis.

Pathoanatomically, a sharp congestion of the internal organs is revealed, often vascular blood clots, heart attacks, and hemorrhages. The spleen is enlarged, hard, dark blue-red in color. The liver is often enlarged and may be cirrhotic. In the diaphysis of tubular bones - the transformation of fatty bone marrow into red. Hyperplasia of the erythroblastic germ in the bone marrow and in extramedullary foci of hematopoiesis retains the usual type of regeneration; hyperplasia of myeloid tissue sometimes becomes similar to leukemic tissue. Hyperplasia of the megakaryocytic apparatus is significant. These changes are detected in the clinic during sternal puncture and more clearly during trepanobiopsy of the ilium.

Clinical course and symptoms. Polycythemia develops most often in old age (40-60 years), but cases of the disease have been described in young people and even in childhood. The disease usually develops gradually. The life expectancy of patients from the moment the disease is detected now reaches an average of 13.3 years [J. N. Lawrence], and in some cases even up to 30 years or more (E. D. Dubovy and M. A. Yasinovsky).

The special coloration of the integument (erythrosis) is typical: intense dark red with a cherry tint, especially pronounced on the face and distal parts of the limbs; mucous membranes are bright red, often cyanotic; the injection of scleral vessels is noticeable, the gums are loosened, often bleed, and periodontal disease is detected. Congestion with an increase in the mass of circulating blood by 2-4 times, with an increase in its viscosity significantly affects the state of the cardiovascular system and blood circulation, the speed of blood flow decreases by 2-3 times or more. Hypertension is one of the most important and common symptoms of polycythemia. A combination of polycythemia with hypertension cannot be excluded. Of great importance are lesions of peripheral vessels with the development of thromboangiitis obliterans, and sometimes blockages of arteries with gangrene, thrombosis of cerebral vessels, coronary arteries, splenic and renal arteries with the formation of infarctions, thrombosis of the portal vein and its branches. There are bleedings from the nose, gums, stomach, intestines, uterus, etc., hemorrhages in the brain, abdominal cavity, spleen.

Nervous system disorders occur from the very beginning of the disease. Based on the totality of neurological symptoms, individual syndromes can be distinguished: cerebrovascular insufficiency, neurasthenic, diencephalic, vegetative-vascular, polyneuritic and erythromelalgia.

Splenomegaly is observed in 2/3-3/4 of all cases. Enlargement and thickening of the liver are noted in 1/3-1/2 of patients.

No pronounced changes in the condition of the kidneys are observed.

The number of red blood cells in 1 ml3 of blood is usually 6-10 million, in some cases - 12 million. The percentage of reticulocytes is relatively low. The hemoglobin content reaches 120-140% (20-23 g), rarely higher. The color index is below one. The number of leukocytes is increased (in more than 1/2 of patients) and sometimes reaches more than 1 mm 3, mainly due to neutrophils with a shift to the left to metamyelocytes and myelocytes. The largest number of leukocytes and the appearance of younger forms are observed with the development of myeloid leukemia. For the most part, the number of platelets also increases - sometimes even up to 1 million or more per 1 mm 3. ROE slowed down to 1 mm in 1 and even 2 hours. The ratio between the volume of erythrocyte mass and plasma, determined using hematocrit, increases to 85:15. Pain in the bones with changes in the structure of their tissue is quite common, especially in the epimetaphyses of long tubular bones.

In the early stages, the appearance of neurovascular disorders acquires diagnostic significance. With a pronounced picture of polycythemia, recognition is primarily based on the classic triad: erythrosis, polyglobulia, splenomegaly. Polycythemia should be distinguished from a number of conditions also characterized by an increase in the number of red blood cells per unit volume of blood - the so-called polyglobulia, or erythrocytosis. False polyglobulia is not associated with a real increase in the number of red blood cells in the peripheral blood, but occurs as a result of blood thickening, for example, with significant diarrhea and vomiting (for example, with cholera), increased sweating, and copious diuresis. Symptomatic polyglobulia can be relative when the number of red blood cells in the peripheral blood increases mainly due to their redistribution (with the release of deposited blood), for example, during rapid rises to altitude, acute cardiac and pulmonary failure.

Of particular importance in differential diagnosis is true absolute polyglobulia with a reactive increase in bone marrow erythropoiesis. Most often it is associated with a long-term anoxic state: in residents of high mountains, with congenital heart defects, acquired defects with severe circulatory failure, sclerosis of the branches of the pulmonary artery, pneumosclerosis, severe emphysema and other lung diseases. This also includes polyglobulia when exposed to toxic substances on hematopoiesis. Acquiring importance in the occurrence of polyglobulia and damage to the central nervous system (for example, the subthalamic region) by an inflammatory or tumor process, some endocrine disorders (Itsenko-Cushing syndrome), etc. In the differential diagnosis between polycythemia and polyglobulia, an enlarged spleen, leukocytosis with a neutrophilic shift to the left indicate in favor of polycythemia , thrombocytosis, a significant increase in total blood mass and especially erythrocytes with a high hematocrit, trepanobiopsy data, a significant increase in the activity of neutrophil alkaline phosphatase, a high rate of absorption from plasma Fe69, etc.

The prognosis, given the progressive nature of the disease, the absence of spontaneous remissions and spontaneous cure, is generally unfavorable, although with modern therapy life and work capacity are preserved longer. The cause of death is most often vascular complications - thrombosis, hemorrhage, bleeding, circulatory failure or a transition to a picture of myelosis or, less commonly, to hemocytoblastosis, to aplastic anemia due to the development of myelofibrosis and osteomyelosclerosis.

Treatment is pathogenetic. Bloodletting (usually 400-500 ml repeatedly at intervals of 2-3-5 days until a clear decrease in red blood counts) is especially indicated for high blood pressure, the threat of cerebral complications and high hematocrit values. This method provides relief only over the next few months and is often used in combination with radiophosphorus therapy.

Radiation therapy is the most effective. It is more appropriate to irradiate the entire body with X-rays.

In recent years, radioactive phosphorus (P 32) has been widely used, which is administered on an empty stomach through the mouth in the form of NaHP 32 O 4 in 20-40 ml of a 40% glucose solution, and can also be used intravenously. Contraindications to the use of P 32 are liver diseases with significant dysfunction, kidney disease, leukopenia (below 4000 in 1 mm 3), thrombocytopenia (below 1 mm 3).

Fractional administration of P 32 is more widespread (1.5 - 2 microcuries per dose once every 4-7-10 days, a total of 6-8 microcuries per course in accordance with the red blood counts and the patient’s weight). Before starting treatment with P 32, it is recommended to carry out 2-3 bloodlettings of 400-500 ml at intervals of 2-3 days, especially in patients with severe symptoms of cerebrovascular accident, the number of red blood cells above 7.5-8 million per 1 mm 3 and high hematocrit indicators (65-70).

The clinical effect is felt after 2-4 weeks, and hematological remission occurs after 2-4 months. after the start of treatment and usually lasts 2-3 years or more.

When treating P 32, complications may occur in the form of leukopenia, thrombocytopenia and, less commonly, anemia, which are transient in nature.

Repeated courses of treatment with P 32 are prescribed for relapses of the disease.

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 this disease “loves” men aged 60 or so 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:

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;
Thrombosis of coronary vessels with the development of myocardial infarction is possible;
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 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.

Video: polycythemia in the program “Live Healthy!”

Please tell me, should I go to another city or even to another country to find out the cause of this disease? And can I give birth with such a diagnosis? Thank you in advance.

Since the exact causes of erythremia have not been clarified to date, going to another city or another country makes no sense. As for planning children, you should take into account that pregnancy can provoke a worsening of the condition and progression of the disease, so you should think carefully about whether it is worth the risk. After all, you have a child for whom it is important that you feel good.

Hello, I'm 29 years old. Three years ago I was diagnosed with Polycythemia, stage 2B. The disease was discovered a year after giving birth. It is possible that I was already sick during pregnancy. Tell me, please, is there a risk for the child? Very worried.

Hello! Polycythemia is not transmitted during pregnancy from mother to fetus, and the hereditary mechanism of its occurrence has not yet been proven, so there is no need to worry. If there were no signs of illness during pregnancy, then it could not have a negative impact on the development of the baby, so do not worry, the risk for the child is almost zero.

Thank you very much! You can't even imagine how you calmed me down. Tell me, please, is it true that this disease cannot be cured? I have been taking Hydrea for 4 years now. It gives me problems, for example, with my skin. And is it true that the average life expectancy with the second stage is 13 years? Plus, my platelets grow first.

Yes, indeed, it is hardly possible to cure erythremia, but life expectancy and prognosis depend on the effectiveness of treatment, general condition and many other factors. Monitor your health and visit your doctor regularly. Health to you!

THANK YOU VERY MUCH!

Hello! I am 27 years old. A diagnosis of polycythemia vera was made. Before the diagnosis, I gave birth to a baby, but from blood tests during and before pregnancy I can say that the disease already existed (hemoglobin was 188, platelets about 500), I also had severe migraines, but the hematologist with a calm soul sent me to continue the pregnancy, i.e. They sent me to her straight from the gynecology department, I lay there with a threat. At the same time, the hematologist didn’t even tell me to come back after the birth. 2 years after giving birth, I decided to take a blood test - platelets were over 800, hemoglobin 188. I went to a hematologist, who did not pay attention to this when I was pregnant. 2 years after giving birth, with such blood tests, she sent me to the Kirov Institute of Hematology, where I had a trepanobiopsy, based on which the diagnosis was polycythemia vera, BUT the histological picture is described below and even lower is the fact that it corresponds to grade 1 primary myelofibrosis. What does it mean? I called the manager there, who diagnosed and treated me, she says that these diseases are from the same series and are treated in the same way, and, in her opinion, this is still true polycythemia... How can I find out? There I had erythrocytopheresis, and after two procedures my hemoglobin returned to normal. I took hydrea 6 per day for 10 days, then 1 capsule per day. It will be a year in February. I don't take anything else. The indicators are normal. Platelets and hemoglobin are the upper limits of normal. Now a doctor from my city, who overlooked me when I was pregnant, wants to transfer me to Liferon and then, after I went for a consultation in Moscow... what should I do? Loop.. I'm not sure about local hematologists... Help, please! I want to raise a son.

Hello! We cannot judge unambiguously, but we still agree more with the manager, who believes that you have polycythemia. Firstly, your tests clearly indicate this, and secondly, myelofibrosis often accompanies polycythemia and is its consequence, and in the case of primary myelofibrosis, although blood cells multiply, there are other symptoms characteristic of this particular condition. As for treatment, if polycythemia requires certain measures, then myelofibrosis requires only observation, so it is worth concentrating on monitoring blood counts. If you are not confident in your hematologists, then it makes sense to consult with those you can trust, and you can periodically take blood tests in your city. Health to you!

Good afternoon, I’m 28, girl, hemoglobin is increased to, hematocrit is 42, red blood cells are increased to 5.06, ESR is 2. The average platelet volume is slightly reduced, and the number is normal. Is there a big chance of erythremia? Very scary.

Hello! There is a chance, but the given parameters are not enough to make a diagnosis. You should consult a hematologist, who will prescribe other examinations if necessary.

Good afternoon I am 40 years old and was diagnosed with erythremia. Question: if treatment is started at the initial stage of the disease, will the disease progress further or stop at this stage? And does the face always turn red with this disease, even if you are being treated?

Hello! With treatment, remission can be achieved, but it is impossible to guarantee that a relapse will not occur. The face turns red even during treatment, because the number of red blood cells is somehow increased. You need to be treated in any case; you can live with erythremia for quite a long time.

When the disease occurs, there is a danger of hypoxia, when body tissues do not receive enough oxygen. Even with excellent immunity, the patient needs treatment. The body cannot cope with the disease on its own:

problems arise with the liver and spleen;
blood pressure increases;
the proper functioning of the kidneys is disrupted.

Note!

Elderly people are at risk. Most often, according to statistics, these are men.

If younger people or children get sick, they suffer much more severely. The causes of the disease lie in the genetic predisposition of people. Vaquez-Osler disease is named after the Frenchman Louis Henry Vaquez and the Canadian William Osler, doctors who first described the disease in the late 19th and early 20th centuries.

Stages and symptoms of Vaquez disease

This disease develops secretly. Many patients are not even aware of it for a long time. At the onset of the disease there are no specific symptoms.

At the middle stage:

There are complaints of constant headaches.
Feeling dizzy and difficult to concentrate.
Severe itching of the epidermis occurs.
The skin turns red, the veins become visible.
Often the itching intensifies from contact with water.
In addition to redness of the skin, there is also darkening of the mucous membrane.
The veins in the neck swell and become visible.

Platelets are the main cause of capillary blockage, so patients experience pain in the limbs and joints. Bleeding gums are often observed. Patients lose weight and catch colds. They experience decreased visual acuity, hearing, and frequent mood swings.

The next stage is accompanied by dehydration, oxygen starvation, and lung disease. Heart failure occurs and kidney function deteriorates. Due to lack of oxygen, red blood cell production increases.

The terminal stage is the beginning of the malignant stage of development. In addition to erythrocytosis syndrome, the patient feels pain throughout the body. Leukemia begins. Bleeding begins, inflammation and infections worsen. The spleen suffers, problems with the liver appear.

Mechanism of development and causes of the disease

With increased production of red blood cells, hemoglobin increases significantly. A tumor forms in the bone marrow and the production of young red blood cells increases. Pathology leads to blood thickening. This is how secondary erythremia differs from primary erythremia.

The causes of polycythemia are not yet well understood. The disease occurs due to mutations and increased creation of red blood cells (erythropoiesis).

On a note!

Since stem cell mutations develop in the bone marrow, doctors classify this disease as a type of genetic pathology.

This is also evidenced by medical statistics. Varieties of chronic leukemia are often observed among relatives. Vaquez can also be caused by blood clotting disorders.

Symptoms and diagnosis

It is quite difficult to make a diagnosis at the onset of the disease. Many of the symptoms of Vaquez are characteristic of other ailments: joint disease appears like gout, hot water contributes to itching. The veins become visible and swell. The skin takes on a dark red tint. Appears:

dizziness;
weakness;
headache.

Patients have problems with vision and hearing and find it difficult to concentrate on anything. Blood pressure increases. Stomach ulcers may occur. Blood clots often form. The brain does not receive enough oxygen and the risk of stroke increases. When anemia occurs, the skin becomes pale and dizzy.

Attention!

To detect the disease, a biochemical blood test is used. The number of red blood cells in patients may be 2 times higher than normal. This may indicate the onset of the disease.

Suspicion of polycythemia is caused by an increase in uric acid in the body. However, to be sure of the correct diagnosis, a brain puncture is performed. The operation is performed without pain relief. The puncture makes it possible to determine the state of fibrosis and cancer cells. To find out the extent of damage to internal organs, ultrasound examinations are performed. The diagnosis is made if persistent weight loss is observed and the color of the skin and mucous membranes changes.

During a radiological examination, the number of red blood cells is counted. Trephine biopsy examines the condition of the ilium. This method most accurately allows you to make a diagnosis. The bone marrow is examined using a sternal puncture. To study the speed of blood flow in the vessels, the Doppler sonography method is used.

Prevention and treatment

There are no effective measures to prevent this disease. We are talking about methods of secondary prevention. This is dynamic observation with the help of examinations and treatment. Therefore, prevention is aimed at secondary types of the disease. First of all you need to:

stop smoking;
maintain body weight;
drink more water.

It is necessary to treat all acute diseases and control foci of inflammation. Follow doctors' recommendations and follow the prescribed diet. Usually this is “Table No. 5 and No. 6”.

When choosing treatment tactics, the patient's age is taken into account. It is especially important to prevent the development of thrombosis. The most effective method is bloodletting. Up to 500 ml of blood is pumped out at a time. This method is often combined with chemotherapy. Cytoreductive therapy has a good effect. The following drugs are used:

Chlorambucil;
Myelosan.

Treatment of patients under 50 years of age, without complications, consists only of bloodletting. Well proven:

Alpha interferon;
antitumor drugs.

The most commonly prescribed medication is Allopurinol. At the same time, kidney function improves, pain in the limbs disappears. Anticoagulants are prescribed to improve blood circulation. For itchy skin, drugs that suppress the action of histamine are indicated. The hematologist draws up a separate treatment regimen. Aspirin eliminates blood circulation problems. The use of such antiplatelet agents is recommended for all patients.

The main recommendation is proper nutrition and diet. In addition, physical fatigue should not be allowed. It is necessary to exclude foods that increase blood flow. Cayenne pepper, pomegranates, and onions are prohibited. Vegetable and dairy products are useful. At the second stage of the disease, it is necessary to exclude from food the consumption of:

fish;
meat.

Note!

Even supporters of traditional medicine agree that herbs cannot cure the disease. Traditional recipes are good for prolonging remission and maintaining a stable condition of the patient.

Many folk recipes have a good effect on the hematopoietic component. They definitely need to be used. Using traditional methods, you can dull pain or relieve spasms. Complete recovery with herbal medicine is impossible. Even if the symptoms of the disease improve, the pathology will not go away; an exacerbation may occur at any time.

Traditional medicine can only dull the pain for a while. It may also relieve spasm and aggravation. Recipes for herbal treatment have proven themselves well. For example, there are many ways to avoid blood waste. The sweet clover herb is brewed in water, filtered through a sieve, and half a glass is consumed orally. They conduct a monthly course, then take a break for 2 months.

The use of cranberries has an excellent effect. For a glass of boiling water you need 2 tablespoons of dry or fresh berries. Within half an hour, the infusion is brewed and ready for use. The decoction can be sweetened and consumed orally 30 minutes before meals.

Forecast

Polycythemia is a rare disease; the number of newly diagnosed patients per year is about 1 per 100,000 population. Statistics show that people diagnosed with Vaquez live 10-20 years. The disease often affects older people. If the diagnosis was made at the age of 70-80, then a person can live on without really changing his lifestyle. But there are no general rules here.

The medical prognosis for polycythemia is favorable, since it is a benign disease. There is a chance of complete recovery. But no one is immune from relapses of the disease. Liver cirrhosis may occur. Often occurs:

ischemic disease;
thromboembolism.

Doctors are not inclined to compare polycythemia with oncology. This disease is successfully treated. Oncology is the proliferation of the epithelium, and Vaquez-Osler is a lesion of the hematopoietic tissue. The disease does not develop quickly. A person always undergoes tests throughout his life; specialists see deviations in the condition of the blood.

Timely detection of polycythemia allows the patient to be cured at an early stage. Diagnosis has improved significantly in recent years. Scientists have created a new class of drugs.

Polycythemia vera (erythremia, Vaquez's disease, polycythemia rubra) - PV is a chronic neoplastic myeloproliferative disease with stem cell damage, proliferation of three hematopoietic lineages, increased production of red blood cells and, to a lesser extent, leukocytes and platelets. At a certain stage of the disease, myeloid metaplasia of the spleen occurs.

The frequency of polycythemia vera is approximately 1 random per 100 thousand population per year and in recent years has an undoubted tendency to increase. Men get sick slightly more often than women (1.2:1). The average age of patients is 60 years, patients under 40 years old make up only 5%.

Etiopathogenesis. Polycythemia vera is a clonal neoplastic disease, which is based on the transformation of a hematopoietic stem cell. Since malignant transformation occurs at the level of a pluripotent stem cell, all three lineages of hematopoiesis are involved in the process. In patients suffering from PV, there is an increased content of CFU-GEMM (colony-forming units - granulocytic, erythroid, macrophage and megakaryocyte) - progenitor cells close to a pluripotent stem cell. In cell culture, active proliferation of these cells occurs in the absence of erythropoietin. Low serum erythropoietin levels are a specific sign of PV. In the bone marrow, hyperplasia of predominantly erythroid cells, as well as granulocytic and megakaryocytic lineages, is observed. A characteristic feature is the presence of clusters of polymorphic megakaryocytes (from small to giant). Myelofibrosis is rarely observed at the time of diagnosis, but manifests itself clearly with a long course of the disease. Gradually, the number of reticulin and collagen fibers increases, myelofibrosis develops and myelopoiesis is reduced. The mass of circulating erythrocytes (MCE) increases, hematocrit increases, blood viscosity increases (there is a significant increase in hemoglobin content in the blood (from 180 g/l and above), red blood cells (from 6.6 x 10 12 /l) and hematocrit (from 55 % and higher). These factors, along with thrombocytosis, lead to impaired microcirculation and thromboembolic complications. In parallel, myeloid metaplasia of the spleen is associated. In IP there is no specific cytogenetic marker, however, in a significant number of patients with IP in the stage of development of myelofibrosis, chromosomal anomalies.

Clinical picture changes with the course of the disease and is determined mainly by the stage of the disease. In the domestic literature, it is customary to distinguish four stages of IP, which reflect the pathological processes occurring in the bone marrow and spleen of patients

Stages:

I - initial, low-symptomatic (5 years or more):

the spleen is not palpable

moderate erythrocytosis

moderate plethora

in the bone marrow panmyelosis

Vascular and thrombotic complications are possible, but not common

External manifestations of the disease are plethora, acrocyanosis, erythromelalgia (burning pain, paresthesia in the fingertips) and itchy skin after washing. An increase in MCE and, consequently, in circulating blood volume leads to arterial hypertension. If the patient has previously suffered from hypertension, then the blood pressure level increases, and antihypertensive therapy becomes ineffective. The manifestations of coronary heart disease and cerebral atherosclerosis are aggravated. Since MCE increases gradually, plethora, an increase in the number of red blood cells and hemoglobin, signs of microcirculation disorder in a number of patients appear 2-4 years before the diagnosis is made.

II – erythremic, expanded (10-15 years):

A. Without myeloid metaplasia of the spleen

general condition is disturbed

pronounced plethora (Hb 200 g/l or more)

thrombotic complications (stroke, myocardial infarction, necrosis of the fingertips)

panmyelosis

erythromelalgia (pain in the limbs and bones)

In the picture of peripheral blood, in addition to erythrocytosis, neutrophilia is often present with a shift of the leukocyte formula to the left to single myelocytes, as well as basophilia and thrombocytosis. In the bone marrow, total three-line hyperplasia with pronounced megakaryocytosis is detected, and reticulin myelofibrosis is possible. But at this stage of the disease there is still no myeloid metaplasia of the spleen (MMS), and the observed splenomegaly is due to increased sequestration of erythrocytes and platelets. Vascular complications are more frequent and severe than in the first stage of the disease. In the pathogenesis of thrombosis, an important role is played by an increase in MCE, leading to an increase in blood viscosity and a slowdown in blood flow, thrombocytosis, as well as dysfunction of the endothelium. Ischemia associated with impaired arterial blood flow is observed in 24-43% of patients. Thrombosis of cerebral vessels, coronary and arteries supplying blood to the abdominal organs predominates. Venous thrombosis is detected in 25-30% of patients and is the cause of death in approximately a third of patients suffering from PV. Thrombosis of the veins of the portal system and mesenteric veins is not uncommon. In a number of patients, it is thrombotic complications that become a manifestation of IP. Polycythemia vera may be accompanied by hemorrhagic syndrome: frequent nosebleeds and bleeding after tooth extraction. Hypocoagulation is based on a slowdown in the conversion of fibrinogen to fibrin, which occurs in proportion to the increase in hematocrit, and a violation of blood clot retraction. Erosion and ulcers of the stomach and duodenum are considered as visceral complications of IP.

B. With myeloid metaplasia of the spleen (MMS).

hepatosplenomegaly

plethora is moderately expressed

panmyelosis

increased bleeding

thrombotic complications

Splenomegaly increases, the number of leukocytes increases, the shift of the leukocyte formula to the left becomes more pronounced. In the bone marrow - panmyelosis; Reticulin and focal collagen myelofibrosis gradually develops. The number of red blood cells and platelets decreases somewhat due to their increased destruction in the spleen, as well as the gradual replacement of hematopoietic tissue with fibrous tissue. At this stage, stabilization of the patient’s condition may be observed, the level of hemoglobin, red blood cells and platelets approaches normal without therapeutic measures.

III - anemic:

anemic sm (even pancytopenia)

severe myelofibrosis

liver, spleen enlarged

In the bone marrow, collagen myelofibrosis increases and myelopoiesis decreases. The hemogram shows anemia, thrombocytopenia, and pancytopenia. The clinical picture of the disease may include anemic and hemorrhagic syndromes, splenomegaly and cachexia increase. The outcome of the disease can be transformation into acute leukemia and myelodysplastic syndrome (MDS).

Diagnostics. Currently, the criteria developed by the American Polycythemia Vera Study Group (PVSG) are used to establish the diagnosis of polycythemia vera. You-

1) an increase in the mass of circulating red blood cells (more than 36 ml/kg for men and more than 32 ml/kg for women);

2) normal saturation of arterial blood with oxygen (pO2 more than 92%);

3) splenomegaly.

1) thrombocytosis (platelet count more than 400 x 10 9 /l);

2) leukocytosis (the number of leukocytes is more than 12 x 10 9 /lb without signs of infection);

3) alkaline phosphatase activity (neutrophils above 100 units in the absence of fever or infection);

4) high content of vitamin B12 (more than 900 pg/ml).

The diagnosis of IP is considered reliable if the patient has all three signs of category A, or if the first and second signs of category A and any two signs of category B are present.

Currently, the most important diagnostic sign is the characteristic histological picture of the bone marrow; hyperplasia of cells of erythroid, granulocytic and megakaryocyte lineages with a predominance of erythroid, accumulations of polymorphic megakaryocytes (from small to giant). Myelofibrosis is rarely observed at the time of diagnosis, but becomes distinct with a long course of the disease.

At stage I, polycythemia vera, characterized by isolated erythrocytosis, must be differentiated from secondary erythrocytosis, which is a response to any pathological process in the body and can be either true or relative.

Relative erythrocytosis is a consequence of hemoconcentration, that is, MCE is normal, but the plasma volume is reduced, which is observed with dehydration of the body (for example, taking diuretics, polyuria in patients with diabetes, vomiting and diarrhea), loss of a large amount of plasma due to burns.

True secondary erythrocytosis (MCE is increased, hematocrit is increased) is caused by increased production of erythropoietin. The latter is compensatory in nature and is caused by tissue hypoxia in people living at significant altitudes above sea level, in patients with pathologies of the cardiovascular and respiratory systems, and in smokers. This category also includes patients with hereditary hemoglobinopathies, characterized by an increased affinity of hemoglobin for oxygen, of which a smaller amount is released in the body tissues. Inadequate production of erythropoietin is observed in kidney diseases (hydronephrosis, vascular pathology, cysts, tumors, congenital anomalies), hepatocellular cancer, large uterine fibroids. An essential differential diagnostic feature is the level of serum erythropoietin.

Treatment. In the initial stages of the disease, it is recommended to use bloodletting, which significantly alleviates the manifestations of plethoric syndrome. The method of choice for reducing hematocrit (and hemoglobin to normal values) is bloodletting (exfusion), which is recommended if the hematocrit exceeds 0.54. The goal of treatment is a hematocrit of less than 0.42 for women and 0.45 for men. In modern conditions, bloodletting can be replaced by erythrocytepheresis. In addition, to facilitate bloodletting and prevent thrombotic complications, patients are given courses of disaggregant therapy (aspirin, rheopolyglucin, etc.). Choosing a treatment method at advanced stage II of IP is perhaps the most difficult task. In addition to erythrocytosis, patients have leukocytosis and thrombocytosis, and the latter can reach very high numbers. Some patients have already suffered some kind of thrombotic complications, and exfusions increase the risk of thrombosis.

When individualizing therapy, the age of the patients must be taken into account. This is the treatment of patients under 50 years of age, without a history of thrombotic complications and severe hyperthrombocytosis (< 1000,0 х 10 9 /л) может быть ограничено только кровопусканиями в сочетании с терапией аспирином (или без него) в дозе 100-375 мг в день.

For patients over 70 years of age, with a history of thrombotic complications and severe hyperthrombocytosis, therapy with myelosuppressive drugs is indicated. Patients 50 to 70 years of age without thrombotic complications or severe hyperthrombocytosis can be treated with myelosuppressive agents or phlebotomy, although the latter treatment may increase the risk of thrombotic complications.

Currently, in addition to bloodletting and antiplatelet agents, hydroxyurea and alpha-interferon are mainly used for the treatment of PV, less often busulfan, and anagrelide is used abroad. Hydroxyurea may be the drug of choice in patients with PV with severe leukocytosis and thrombocytosis. But for young patients, the use of hydroxyurea is limited by its mutagenic and leukosogenic effects. In addition to hydroxyurea, interferon-alpha is widely used in the treatment of PV. Firstly, IF-a suppresses pathological proliferation quite well and does not have a leukemic effect. Secondly, like hydroxyurea, it significantly reduces the production of platelets and white blood cells. The ability of IF-a to eliminate skin itching caused by water procedures deserves special attention.

Aspirin in a daily dose of 50-250 mg, as a rule, eliminates microcirculation disorders. Taking this drug or other antiplatelet agents for therapeutic or prophylactic purposes is recommended for all patients with IP.

Unfortunately, there is currently no effective treatment for anemic stage III PV. Therapy is limited to palliatives. Anemic and hemorrhagic syndrome is corrected by transfusions of blood components. The effectiveness of hematopoietic stem cell transplantation in patients with PV in the stage of myelofibrosis with splenomegaly and pancytopenia and transformation into acute leukemia or MDS has been reported. The three-year survival rate of patients after transplantation was 64%.

Forecast. Despite its long and in some cases favorable course, IP is a serious disease and is fraught with fatal complications that shorten the life expectancy of patients. The most common cause of death in patients is thrombosis and embolism (30-40%). In 20-50% of patients in the stage of post-polycythaemic myelofibrosis (IP stage III), transformation occurs into acute leukemia, which has an unfavorable prognosis - a three-year survival rate of only 30%.

Polycythemia vera (primary polycythemia, Vaquez disease, erythremia) is the most common disease of the group of chronic myeloproliferative diseases. The pathological process primarily affects the erythroblastic sprout of the bone marrow, which causes an increase in the number of red blood cells in the peripheral blood, as well as an increase in the viscosity and mass of circulating blood (hypervolemia).

The disease occurs predominantly in older people (the average age of onset is approximately 60 years), but is also diagnosed in young people and children. Young patients are characterized by a more severe course of the disease. Men are slightly more susceptible to polycythemia vera than women, but for young patients the inverse proportionality is typical.

Causes and risk factors

The reasons contributing to the occurrence of polycythemia vera have not been definitively established. Pathology can be both hereditary and acquired. A family predisposition to the disease was discovered. In patients with polycythemia vera, gene mutations are detected that are inherited in an autosomal recessive manner.

Risk factors include:

influence of toxic substances on the body;
ionizing radiation;
X-ray irradiation;
extensive burns;
long-term use of a number of medications (gold salts, etc.);
advanced forms of tuberculosis;
distress;
viral diseases;
tumor neoplasms;
smoking;
endocrine disorders caused by adrenal tumors;
heart defects;
liver and/or kidney diseases;
extensive surgical interventions.

Forms of the disease

Polycythemia vera is of two types:

primary (not a consequence of other pathologies);
secondary (develops against the background of other diseases).

Without adequate treatment for polycythemia vera, 50% of patients die within 1-1.5 years from the time of diagnosis.

Stages of the disease

The clinical picture of polycythemia vera is divided into three stages:

Initial (asymptomatic) – clinical manifestations are minor, duration is about 5 years.
The erythremic (advanced) stage lasting 10–20 years, in turn, is divided into substages: IIA – no myeloid metaplasia of the spleen; IIB – presence of myeloid metaplasia of the spleen;
Post-erythraemic myeloid metaplasia stage (anemic) with or without myelofibrosis; capable of developing into chronic or acute leukemia.

Symptoms

Polycythemia vera is characterized by a long asymptomatic course. The clinical picture is associated with increased production of red blood cells in the bone marrow, which is often accompanied by an increase in the number of other cellular elements of the blood. An increase in platelet content leads to vascular thrombosis, which can cause strokes, myocardial infarction, transient ischemic attacks, etc.

In later stages of the disease, you may experience:

skin itching, worsened by exposure to water;
attacks of pressing pain in the chest during physical activity;
weakness, increased fatigue;
memory disorder;
headaches, dizziness;
erythrocyanosis;
redness of the eyes;
visual impairment;
increased blood pressure;
spontaneous bleeding, ecchymosis, gastrointestinal bleeding;
dilated veins (especially neck veins);
short-term intense pain in the fingertips;
stomach and/or duodenal ulcer;
joint pain;
heart failure.

Diagnostics

The diagnosis of polycythemia vera is established on the basis of data obtained during the examination:

taking anamnesis;
objective examination;
general and biochemical blood test;
general urine analysis;
trephine biopsy followed by histological analysis of the biopsy;
ultrasound examination;
computed tomography or magnetic resonance imaging;
molecular genetic analysis.

A blood test for polycythemia vera shows an increase in the number of red blood cells

Diagnostic criteria for polycythemia vera:

increased mass of circulating erythrocytes: in men – more than 36 ml/kg, in women – more than 32 ml/kg;
leukocytes – 12 × 10 9 /l or more;
platelets – 400 × 10 9 /l or more;
increase in hemoglobin to 180–240 g/l;
increase in oxygen saturation in arterial blood – 92% or more;
increase in the serum content of vitamin B 12 – 900 pg/ml or more;
increase in leukocyte alkaline phosphatase activity to 100;
splenomegaly.

The disease occurs predominantly in older people (the average age of onset is approximately 60 years), but is also diagnosed in young people and children.

Differential diagnosis is necessary with absolute and relative (false) erythrocytosis, neoplasms, and hepatic vein thrombosis.

Treatment

Treatment of polycythemia vera is aimed primarily at preventing the development of leukemia, as well as prevention and/or treatment of thrombohemorrhagic complications. Symptomatic therapy is carried out to improve the patient’s quality of life.

To reduce blood viscosity in hyperviscosity syndrome, a course of phlebotomies (exfusions, bloodlettings) is performed. However, with initially high thrombocytosis, phlebotomy may contribute to the occurrence of thrombotic complications. Myelosuppressive therapy is indicated for patients who do not tolerate bloodletting well, as well as in childhood and adolescence.

Interferon drugs are prescribed for a long course (2-3 months) to reduce myeloproliferation, thrombocythemia, and also to prevent the development of vascular complications.

Using hardware therapy methods (erythrocytapheresis, etc.), excess blood cellular elements are removed. To prevent thrombosis, anticoagulants are prescribed. To reduce the manifestations of skin itching, antihistamines are used. In addition, patients are advised to adhere to a dairy-vegetable diet and limit physical activity.

With a pronounced increase in the size of the spleen (hypersplenism), splenectomy is indicated for patients.

Possible complications and consequences

Polycythemia vera can be complicated by:

myelofibrosis;
splenic infarction;
anemia;
nephrosclerosis;
cholelithiasis and/or urolithiasis;
gout;
myocardial infarction;
ischemic stroke;
liver cirrhosis;
pulmonary embolism;
acute or chronic leukemia.

Forecast

With timely diagnosis and treatment, survival rate exceeds 10 years. Without adequate therapy, 50% of patients die within 1-1.5 years from the moment of diagnosis.

Prevention

Due to the fact that the exact causes of the disease are unclear, effective methods for preventing polycythemia vera have not yet been developed.

Video from YouTube on the topic of the article:

Polycythemia is a disease that can be identified just by looking at a person's face. And if you carry out a diagnostic examination, then there will be no doubt at all. In the medical literature you can find other names for this pathology: erythremia, Vaquez disease. Regardless of the term chosen, the disease poses a serious threat to human life. In this article we will talk in more detail about the mechanism of its occurrence, primary symptoms, stages and proposed treatment methods.

general information

Polycythemia vera is a myeloproliferative blood cancer that produces red blood cells in excess quantities. To a lesser extent, an increase in other enzyme elements, namely leukocytes and platelets, is observed.

Red blood cells (aka erythrocytes) saturate all cells of the human body with oxygen, delivering it from the lungs to the internal organ systems. They are also responsible for removing carbon dioxide from tissues and transporting it to the lungs for later exhalation.

Red blood cells are continuously produced in the bone marrow. It is a collection of sponge-like tissues, localized inside the bones and responsible for the process of hematopoiesis.

Leukocytes are white blood cells that help fight various infections. Platelets are fragments that are activated when the integrity of blood vessels is disrupted. They have the ability to stick to each other and clog the hole, thereby stopping bleeding.

Polycythemia vera is characterized by excess production of red blood cells.

Prevalence of the disease

This pathology is usually diagnosed in adult patients, but can occur in adolescents and children. For a long time, the disease may not make itself felt, that is, it may be asymptomatic. According to studies, the average age of patients varies from 60 to approximately 79 years. Young people get sick much less often, but their illness is much more severe. According to statistical data, representatives of the stronger sex are diagnosed with polycythemia several times more often.

Pathogenesis

Most of the health problems associated with this disease arise from the continuous increase in the number of red blood cells. As a result, the blood becomes excessively thick.

On the other hand, its increased viscosity provokes the formation of clots (thrombi). They can interfere with normal blood flow through arteries and veins. This situation often causes strokes and heart attacks. The thing is that thick blood flows several times slower through the vessels. The heart has to make more efforts to literally push it through.

Slowing blood flow does not allow internal organs to receive the required amount of oxygen. This entails the development of heart failure, headaches, angina, weakness and other health problems that are not recommended to be ignored.

Classification of the disease

I. Initial stage.

Lasts from 5 years or more.
The spleen is of normal size.
Blood tests show a moderate increase in the number of red blood cells.
Complications are diagnosed extremely rarely.

II A. Polycythemic stage.

Duration from 5 to approximately 15 years.
There is an increase in some organs (spleen, liver), bleeding and thrombosis.
There are no areas in the spleen itself.
Bleeding can cause iron deficiency in the body.
The blood test shows a persistent increase in red blood cells, white blood cells and platelets.

II B. Polycythemic stage with myeloid metaplasia of the spleen.

Analyzes show increased levels of all blood cells except lymphocytes.
A tumor process is observed in the spleen.
The clinical picture includes exhaustion, thrombosis, and bleeding.
Gradual scar formation occurs in the bone marrow.

III. Anemic stage.

There is a sharp decrease in red blood cells, platelets and leukocytes in the blood.
There is a marked increase in the size of the spleen and liver.
This stage usually develops 20 years after confirmation of the diagnosis.
The disease can transform into acute or chronic leukemia.

Causes of the disease

Unfortunately, at present experts cannot say which factors lead to the development of a disease such as polycythemia vera.

Most are inclined to the viral-genetic theory. According to it, special viruses (there are about 15 of them in total) are introduced into the human body and, under the influence of certain factors that negatively affect the immune defense, penetrate into the cells of the bone marrow and lymph nodes. Then, instead of maturing as expected, these cells begin to rapidly divide and multiply, forming more and more new fragments.

On the other hand, the cause of polycythemia may be hidden in a hereditary predisposition. Scientists have proven that close relatives of the sick person, as well as people with abnormal chromosome structure, are more susceptible to this disease.

Factors predisposing to the onset of the disease

X-ray exposure, ionizing radiation.
Intestinal infections.
Viruses.
Tuberculosis.
Surgical interventions.
Frequent stress.
Long-term use of certain groups of medications.

Clinical picture

Starting from the second stage of development of the disease, literally all systems of internal organs are drawn into the pathological process. Below we list the subjective sensations of the patient.

Weakness and a persistent feeling of fatigue.
Increased sweating.
Noticeable decrease in performance.
Severe headaches.
Memory impairment.

Polycythemia vera may also be accompanied by the following symptoms. In each specific case, their severity varies.

Diagnostics

First of all, the doctor collects a complete medical history. He may ask a number of clarifying questions: when exactly did the malaise/shortness of breath/painful discomfort appear, etc. It is equally important to determine the presence of chronic ailments, bad habits, and possible contacts with toxic substances.

A physical examination is then performed. The specialist determines the color of the skin. By palpation and tapping, an enlarged spleen or liver is detected.

To confirm the disease, blood tests are required. If the patient has this pathology, the test results may be as follows:

Increase in the number of red blood cells.
Elevated hematocrit parameters (percentage of red blood cells).
High hemoglobin levels.
Low erythropoietin levels. This hormone is responsible for stimulating the bone marrow to produce new red blood cells.

Diagnosis also involves brain aspiration and biopsy. The first version of the study involves taking the liquid part of the brain, and a biopsy - the solid component.

Polycythemia disease is confirmed by gene mutation tests.

What should the treatment be?

It is not possible to completely overcome a disease such as polycythemia vera. That is why therapy focuses exclusively on reducing clinical manifestations and reducing thrombotic complications.

Patients are first prescribed bloodletting. This procedure involves the removal of a small amount of blood (from 200 to approximately 400 ml) for therapeutic purposes. It is necessary to normalize the quantitative parameters of the blood and reduce its viscosity.

Patients are usually prescribed Aspirin to reduce the risk of developing various types of thrombotic complications.

Chemotherapy is used to maintain a normal hematocrit when severe pruritus or increased thrombocytosis occurs.

Bone marrow transplantation for this disease is performed extremely rarely, since this pathology is not fatal if adequately treated.

It should be noted that the specific treatment regimen is selected individually in each case. The therapy described above is for informational purposes only. It is not recommended to try to cope with this disease on your own.

Possible complications

This disease is quite serious, so its treatment should not be neglected. Otherwise, the likelihood of unpleasant complications increases. These include the following:

Forecast

Vaquez disease is a rare disease. Symptoms that appear in the early stages of its development should be the reason for immediate examination and subsequent therapy. In the absence of adequate treatment, if the disease is not diagnosed in a timely manner, death occurs. The main cause of death is most often vascular complications or transformation of the disease into chronic leukemia. However, competent therapy and strict adherence to all recommendations from the doctor can significantly extend the patient’s life (by 15-20 years).

We hope that all the information presented in this article will be truly useful to you. Be healthy!