Polycythemia causes. Polycythemia vera: what it is, treatment, prognosis, symptoms, stages, signs

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

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. The content of red blood cells in the blood is increased (6,000,000-10,000,000), hemoglobin (20-23 g), slowed down to 1 mm in 1 or even 2 hours.

The course of the process is long, the prognosis worsens if the vessels of vital organs develop.

Treatment is in a hospital setting with repeated bloodletting, 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 20,000-25,000 or more per 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 - up to 600,000 and even sometimes 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 per 1 mm 3), thrombocytopenia (below 150,000 per 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.

Vaquez's disease is a chronic disease, the cause of which is damage to the precursor cell of myelopoiesis, manifested by unlimited erythroid proliferation and preserved ability to differentiate into 4 hematopoietic lineages. In terms of structure and average annual incidence rates, polycythemia ranks 4th after. Polycythemia is a disease predominantly of elderly and old people (average age - 60 years). Cases of the disease are common in young people and children. In young people, the disease progresses more unfavorably.

Symptoms:

Polycythemia is characterized by a long-term and relatively benign course.

There are several stages in the clinical course:

      *initial, or asymptomatic, stage, usually lasting 5 years, with minimal clinical manifestations;
      *stage IIA - erythremic advanced stage, without myeloid metaplasia of the spleen, its duration can reach 10-20 years;
      *stage IIB - erythremic advanced stage, with myeloid metaplasia of the spleen;
      *stage III - stage of posterythremic myeloid metaplasia (anemic stage) with or without myelofibrosis; possible outcome in acute, chronic myeloid leukemia.

However, given the usual onset of the disease in elderly and old people, not all patients go through all three stages.

In the anamnesis of many patients, long before the time of diagnosis, there are indications of after-treatment associated with water procedures, “good”, somewhat elevated red blood counts, and a duodenal ulcer. An increase in the mass of circulating erythrocytes leads to an increase in blood viscosity, stasis in the microvasculature, and an increase in peripheral vascular resistance, therefore the skin of the face, ears, tip of the nose, distal parts of the fingers and visible mucous membranes have a red-cyanotic color of varying degrees. Increased viscosity explains the high frequency of vascular, mainly cerebral, complaints: insomnia, a feeling of heaviness in the head, blurred vision,. Epileptiform seizures and paralysis are possible. Patients complain of progressive memory loss. In the initial stage of the disease, arterial hypertension is found in 35-40% of patients. Cellular hypercatabolism and partially ineffective erythropoiesis cause increased endogenous synthesis of uric acid and impaired urate metabolism. Clinical manifestations of urate (uric acid) diathesis - complicating the course of stages IIB and III. Visceral complications include ulcers of the stomach and duodenum; their frequency, according to various authors, ranges from 10 to 17%.

Vascular complications pose the greatest danger to patients with polycythemia. A unique feature of this disease is the simultaneous tendency to both thrombosis and bleeding. Microcirculatory disorders as a consequence of thrombophilia are manifested by erythromelalgia - severe redness and swelling of the distal parts of the fingers and toes, accompanied by burning pain. Persistent erythromelalgia may be a harbinger of thrombosis of a larger vessel with the development of fingers, toes, and legs. coronary vessels is observed in 7-10% of patients. The development of thrombosis is facilitated by a number of factors: age over 60 years, a history of vascular thrombosis, arterial hypertension, any localization, blood exfusion or thrombocytapheresis performed without anticoagulant or disaggregant therapy. Thrombotic complications, in particular myocardial infarction, are the most common cause of death in these patients.
manifested by spontaneous bleeding of the gums, nosebleeds, ecchymosis, characteristic of disorders of the platelet-vascular component of hemostasis. The pathogenesis of microcirculatory bleeding depends primarily on a decrease in the aggregation of defective, neoplastic platelets.

The spleen enlarges in stage IIA, the reason for this is the increased deposition and sequestration of blood cells. In stage IIB, splenomegaly is caused by progressive myeloid metaplasia. It is accompanied by a left shift in the leukocyte formula and erythrokaryocytosis. Liver enlargement often accompanies splenomegaly. Characteristic for both stages. The course of the post-erythremic stage is variable. In some patients it is completely benign, the spleen and liver enlarge slowly, and red blood counts remain within normal limits for a long time. At the same time, rapid progression of splenomegaly, increase, growth and development of blastic transformation is also possible. Acute leukemia can develop both in the erythraemic stage and in the stage of posterythremic myeloid metaplasia.

Causes:

Erythrocytosis, as one of the manifestations of the pathological process, is often secondary, although in a number of regions there are cases of familial erythrocytosis (familial polycythemia, primary erythrocytosis), inherited in an autosomal recessive manner. It is found in various geographical areas; foci of the disease were first identified among residents of Chuvashia.
The main causes of secondary erythrocytosis include tissue hypoxia, both congenital and acquired, and changes in the content of endogenous erythropoietin.

Causes of secondary erythrocytosis:

   A.Vrozhdeniy:
            1.high affinity of hemoglobin for oxygen;
            2.low level of 2,3-diphosphoglycerate;
            3.autonomous production of erythropoietin.
   B.Purchased:
            1.arterial hypoxemia of physiological and pathological nature:
                     “blue” ;
                     chronic pulmonary diseases;
                     smoking;
                     adaptation to high mountain conditions.
            2. kidney diseases:
                     tumors;

                     cystic lesion;
                     diffuse diseases of the renal parenchyma;
                     renal artery stenosis.
            3.tumors:
                     cerebellar hemangioblastoma;
                        Bronchial carcinoma.
            4.endocrine diseases:
                        adrenal tumors.
            5.liver diseases:
                     ;
                     cirrhosis;
                     Budd-Chiari syndrome;
                     hepatoma;
                     .

Treatment:

For treatment the following is prescribed:

Urgent Care. With polycythemia, the main danger is vascular complications. These are mainly gastrointestinal bleeding, pre-infarction, repeated pulmonary vessels, arterial and repeated venous thrombosis, i.e. Emergency therapy for polycythemia is mainly aimed at the relief and further prevention of thrombotic and hemorrhagic complications.

Planned therapy. Modern therapy for erythremia consists of the use of blood exfusions, cytostatic drugs, the use of radioactive phosphorus, and interferon.

Bloodletting, which gives a quick clinical effect, can be an independent method of treatment or complement cytostatic therapy. In the initial stage, which occurs with an increase in the content of red blood cells, 2-3 bloodlettings of 500 ml are used every 3-5 days, followed by the introduction of adequate amounts of rheopolyglucin or saline. In patients with cardiovascular diseases, no more than 350 ml of blood is removed per procedure, exfusions no more than once a week. Bloodletting does not control the number of white blood cells and platelets, sometimes causing reactive. Typically, skin itching, erythromelalgia, gastric and duodenal ulcers are not eliminated by bloodletting. They can be replaced by erythrocytapheresis with replacement of the volume of removed red blood cells with saline solution and rheopolyglucin. The procedure is well tolerated by patients and causes normalization of red blood counts for a period of 8 to 12 months.

Cytostatic therapy is aimed at suppressing the increased proliferative activity of the bone marrow; its effectiveness should be assessed after 3 months. after the end of treatment, although the decrease in the number of leukocytes and platelets occurs much earlier.

The indication for cytostatic therapy is erythremia occurring with leukocytosis, thrombocytosis and splenomegaly, skin itching, visceral and vascular complications; insufficient effect from previous bloodlettings, their poor tolerance.

Contraindications to cytostatic therapy are childhood and adolescence of patients, refractoriness to treatment at previous stages, overly active cytostatic therapy is also contraindicated due to the risk of hematopoietic depression.

The following drugs are used to treat erythremia:

*alkylating agents - myelosan, alkeran, cyclophosphamide.
*hydroxyurea, which is the drug of choice, at a dose of 40-50 mg/kg/day. After a decrease in the number of leukocytes and platelets, the daily dose is reduced to 15 mg/kg for 2-4 weeks, subsequently a maintenance dose of 500 mg/day is prescribed.

A new direction in the treatment of polycythemia is the use of interferon drugs, aimed at reducing myeloproliferation, platelet count and vascular complications. The onset of therapeutic effect is 3-8 months. Normalization of all blood parameters is assessed as an optimal effect, a reduction in the need for erythrocyte exfusion by 50% is assessed as incomplete. During the period of achieving the effect, it is recommended to prescribe 9 million units/day 3 times a week, with a transition to a maintenance dose selected individually. Treatment is usually well tolerated and lasts for many years. One of the undoubted advantages of the drug is the absence of leukemia.

To improve the quality of life, patients are given symptomatic therapy:

      *uric acid diathesis (with clinical manifestations of gout) requires constant intake of allopurinol (milurite) in a daily dose of 200 mg to 1 g;
      *erythromelalgia is an indication for prescribing 500 mg of aspirin or 250 mg of methindol; for severe erythromelalgia, additional heparin is indicated;
      *for vascular thrombosis, disaggregants are prescribed; in case of hypercoagulation, according to coagulogram data, heparin should be prescribed in a single dose of 5000 units 2-3 times a day. The dose of heparin is determined by monitoring the coagulation system. Acetylsalicylic acid is most effective in the prevention of thrombophilic complications, but its use threatens hemorrhagic dose-dependent complications. The basic prophylactic dose of aspirin is 40 mg of the drug per day;
      *skin itching is somewhat relieved by antihistamines; interferon has a significant, but slower (not earlier than 2 months) effect.

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, 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 ones with a benign course. The disease is characterized by the proliferation of all three sprouts 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, but also in other 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. For polycythemia At the same time, an increase in leukocytes of the granulocytic series is observed(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, therefore if erythremia is detected in a child, then most likely she will carry 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.

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

skin and mucous membranes due to the expansion of capillaries;
Pain in the heart area, reminiscent of;
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”;
Tendency to and arteries;
shins;
Thrombosis of coronary vessels with development is possible;
Intermittent claudication, which may result in gangrene;
(almost 50% of patients), giving rise to 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 appear (with thrombosis), (less often), insomnia, memory impairment, and mnestic disorders.

From asymptomatic period to terminal stage

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

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 10-15 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.

Terminal stage, having 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 15-20 years, which may not be bad, especially considering that the disease can strike 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:

, in which you can notice a significant increase in red blood cells (6.0-12.0 x 10 12 / l), (180-220 G / l), (ratio of plasma and red blood). The number of platelets can reach a level of 500-1000 x 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). with polycythemia vera it 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 level determination And . 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 x 10 12 / 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);
(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 suggest revising 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 of blood diseases with folk remedies should not be generalized, and if there are many recipes for increasing hemoglobin levels or for, this does not mean at all that they are suitable for the treatment of polycythemia, from which, in general, no medicinal herbs have been found yet. 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 cannot be confused with the true one, since relative erythrocytosis can occur against the background of many somatic diseases and end successfully 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.

Polycythemia (Vaquez disease) is a chronic disease of the hematopoietic system, in which the patient’s blood increases: the number of red blood cells, circulating blood volume, hemoglobin level and hematocrit.

This disease belongs to the group of chronic 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.

Causes of polycythemia :as multiple congenital or acquired disorders of red blood cell production (this is called primary polycythemia). If polycythemia is caused by some other underlying disease, it is secondary polycythemia. Most cases of polycythemia are secondary, that is, caused by other diseases.

Polycythemia in newborns (neonatal polycythemia) is often caused by transfer of maternal blood from the placenta. Long-term insufficient oxygen supply to the fetus (intrauterine hypoxia) due to problems with the placenta also leads to neonatal polycythemia.

Primary polycythemia is rare.

Polycythemia has two forms:

- relative polycythemia (false, stress, pseudocythemia, Gaisbeck syndrome) - the total mass of erythrocytes maintains a normal level, and an increase in TER is a consequence of a decrease in plasma volume.

- polycythemia vera (polycythemia red) - characterized by a persistent increase in erythrocyte mass, enlarged spleen and increased bone marrow activity, and the hyperplastic process concerns not only erythropoiesis, but also leuko- and thrombocytopoiesis.

There are three stages of polycythemia vera.

First stage of polycythemia(initial) - characterized by moderate erythrocytosis in the blood, panmyelosis in the red bone marrow. Vascular and visceral complications develop rarely. The spleen is slightly enlarged, but it is usually not possible to palpate it (the enlargement of the spleen is due to increased sequestration of platelets and red blood cells in it). The duration of the first stage can exceed 5 years.

Second stage of polycythemia. The advanced (proliferative) stage is characterized by severe plethora, hepatosplenomegaly due to myeloid metaplasia of these organs, thrombosis recurs, and patients become exhausted. In the blood, erythrocytosis, erythrocytosis and thrombocytosis or panmyelosis, neutrophilia with a shift of the leukocyte formula to the left, and an increase in the content of basophils are detected. In the red bone marrow, total hyperplasia of three hematopoietic lineages with pronounced megakaryocytosis is detected; reticulin and focal collagen myelofibrosis are possible. The concentration of uric acid in the blood serum is increased.

Third stage of polycythemia- anemic (exhaustion). The liver and spleen are enlarged and myeloid metaplasia is found in them. Pancytopenia increases in the blood, myelofibrosis progresses in the red bone marrow.

Symptoms of polycythemia : redness of the skin of the face, heaviness in the head, arterial hypertension occurs, the size of the spleen increases, itching of the skin appears, intensifying after taking a bath. The disease is also characterized by: headache, tinnitus, dizziness, absent-mindedness, decreased vision, irritability.

Sometimes the first symptoms of the disease may be peripheral thrombosis and myocardial infarction.

Possible bleeding from the gums, stomach, intestines, uterus; the spleen and liver are enlarged; arterial hypertension and a tendency to thrombosis are detected.

As a result of damage to the cardiovascular system, shortness of breath, angina pectoris, and sometimes myocardial infarction occur. Damage to peripheral vessels is manifested by venous and arterial thrombosis, erythromelalgia, and Raynaud's phenomenon. When the blood supply to the gastrointestinal tract is impaired, flatulence and peptic ulcers occur.

With relative polycythemia: severe vomiting, diarrhea, sweating.

Hypertension is one of the most important and common symptoms of polycythemia.

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.

Splenomegaly is observed in 2/3-3/4 of all cases. Enlargement and thickening of the liver are noted in 1/3-½ of patients.

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

In the blood, the content of erythrocytes is increased to 6 -8×109 g/l (6 - 8 million in 1 μl of blood), hemoglobin (180-200 g/l), ESR is reduced to 1 - 3 mm/h.

Risk factors for polycythemia:

- chronic hypoxia.

- pulmonary hypertension.

- long-term smoking.

- hypoventilation syndrome.

- family predisposition.

- congestive heart failure.

- accommodation high in the mountains.

living in a polluted city.

— COPD (emphysema, chronic bronchitis).

- impaired blood flow in the kidneys.

Polycythemia occurs as a result of mutation of a pluripotent stem cell. Examination of the bone marrow in women with polycythemia vera shows the presence of two types of erythroid cells in this disease. Cells of one population are autonomous and grow even in the absence of erythropoietin, while the second population behaves absolutely normally, while remaining erythropoietin-dependent. And thus, as a result of research, it turned out that the first population is a kind of autonomous mutated clone.

The level of erythropoietin in the plasma and urine of patients with polycythemia vera constantly fluctuates from acceptable values to zero, increasing accordingly as a result of bloodletting. The low level of erythropoietin is explained by the inhibition of its production by feedback, due to an increase in the erythrocyte mass.

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).

Treatment of polycythemia.

Treatment takes place in a hospital and includes: erythrocytapheresis, repeated bloodletting, administration of cytostatic drugs (myelosan, imiphos, myelobromol).

The goal of treatment is to reduce the likelihood of vascular complications by lowering TER and maintaining it at an acceptable level, as well as combating concomitant thrombocytosis.

Existing treatments are controversial. Rapid improvement occurs as a result of bloodletting. This procedure in elderly people should be carried out very carefully, not forgetting that such patients often suffer from cardiovascular diseases.

It is recommended to remove 250-300 ml of blood weekly until the TER decreases to the desired level. In cases where it is impossible to reduce blood volume, it is possible to introduce an equal volume of high molecular weight dextran instead of the removed blood. When conducting the initial treatment course, it is necessary to monitor the growth of TEE. It should be remembered that bloodletting leads to the appearance of iron deficiency anemia.

It is not always possible to maintain the number of red blood cells at an acceptable level by bloodletting, since they do not suppress the production of these cells in the bone marrow. In this case, myelosuppressive therapy must be used.

Human blood has a not very complex composition, thanks to which the human body functions. If anything changes, many organs suffer and important functions are disrupted.

For example, if the number of red blood cells increases, this means that polycythemia is developing.

This word refers to a group of pathologies, the characteristics of which are given in the previous sentence. Moreover, this word does not apply mainly to describing the number of platelets and leukocytes, because, as they say, this is a completely different story, more precisely, other diseases.

This disease has another name – Vaquez disease. The fact is that it was first described by the French clinician Vaquez, and this happened in 1892. It is considered a disease of the second half of life, as it mainly affects people between 40 and 50 years of age. Rare cases have been recorded in young patients, starting from 25 years of age. Men are more susceptible to this condition than women. There are cases where the disease affects several members of the same family.

Causes

As we found out, the main problem is the increase in the number of red blood cells. There are explanations for this. The number of red blood cells usually increases if hematopoiesis is normal, and the degree of blood destruction decreases. However, with Vaquez's disease, blood destruction does not decrease, but increases. Then why are there more red blood cells? This condition is observed with an extended life of each red blood cell, but even this theory does not hold true for the disease of interest to us.

Maybe there is another reason for the change in the number of cells? Eat. It can be described as increased production of red blood cells that exceeds their destruction, even if it is increased.

This is exactly what happens with Vaquez disease. Then another question arises: why are red blood cells produced in huge quantities? It is impossible to name the exact cause of this condition. Over the years, experts have discovered that this can be influenced by various factors, such as:

enlarged spleen;
high blood pressure;
hereditary predisposition.

The mass of red blood cells increases only in one form of the disease - polycythemia vera, which we will talk about below. Moreover, this condition is characterized by both primary and secondary polycythemia.

Another interesting discovery was made. In one patient who died due to polycythemia, a large number of megakaryocytes were found in the pulmonary capillaries. The researcher who discovered this suggested that the increased proliferation of these particles in the bone marrow is caused by an unknown irritant, as well as the increased leaching of them from it. They, getting stuck in the pulmonary capillaries, lead to impaired oxygen metabolism, anoxemia and a persistent increase in red blood cells. However, such an observation remains isolated so far.

There are two main forms of Vaquez disease:

relative form;
true polycythemia.

The latter form is considered a progressive chronic disease of the myeloproliferative type. It is characterized by an absolute increase in the mass of red blood cells. The relative form can also be defined as false and stress.

Polycythemia vera is considered a fairly rare disease. American scientists have found that from three to five cases of the disease per one million people are registered every year. The disease, as we said at the beginning, mainly develops in middle-aged and elderly people, and the average age is gradually increasing. In addition, studies have shown that Jews get sick more often, and Africans less often, although these observations have not yet been scientifically proven.

It is important to divide the causes of the disease into two groups.

Primary causes. These are acquired or congenital disorders related to the production of red blood cells and lead to Vaquez disease. There are two main states in this group. The first of these is Vaquez Vera disease, which is associated with a mutation in the JAK2 gene, which increases sensitivity in EPO cells of the bone marrow. This just leads to an increase in the number of red blood cells. This condition is often characterized by an increase in other cells, such as platelets. The second is a primary congenital or familial condition. In this case, the mutation occurs in the EPOR gene. In response to EPO, red blood cells increase.
Secondary causes. They are based on the formation of an excess number of red blood cells due to high levels of EPO that circulate in the bloodstream. Specific causes include chronic hypoxia, poor oxygen supply, and tumors that produce too much EPO. Several conditions can be identified that lead to an increase in erythropoietin due to insufficient oxygen supply or hypoxia: pulmonary hypertension, chronic bronchitis, emphysema, COPD, hypoventilation syndrome, living in high mountains, apnea, congestive heart failure, poor blood flow to the kidneys.

The disease may occur due to chronic carbon monoxide. Hemoglobin has a higher ability to attach carbon monoxide molecules rather than oxygen molecules. Erythrocytosis can occur as a reaction to the addition of carbon monoxide molecules to hemoglobin. It turns out that the lack of oxygen is compensated for by existing hemoglobin, or more precisely, by its molecules.

By the way, a similar picture is observed with oxygen dioxide when a person has such a bad habit as smoking. There are also so-called mild conditions that can lead to large secretion of EPO - these are renal obstruction and kidney cysts. All of the above reasons mainly apply to people who are mature in age.

Polycythemia in newborns can occur due to the transfer of blood from the mother from the placenta, as well as through transfusion. If intrauterine hypoxia occurs due to placental insufficiency, Vaquez disease may also develop.

Symptoms

The disease begins to develop gradually. It is difficult to identify specific symptoms at first. Symptoms such as:

loss of ability to work;
increasing fatigue;
heaviness in the head;
hot flashes to the head;
dizziness;
shortness of breath with strong movements;
cramps in the calves;
goosebumps in the legs;
unusually healthy complexion;
nosebleeds;
chilliness.

Objective examination reveals an unusual coloration of the skin, it becomes purplish-red and dark red. It is similar to the complexion when inhaling amyl nitrite, severe intoxication, after a steam bath, and so on. However, this should not be confused with cyanosis.

Skin becomes purplish-red and dark red

The peculiar coloring is especially visible on the hands, neck and face, but the shells of the ears are the brightest colored. The lips are blue-red, the throat and tongue are dark red. If you pay attention to the bottom of the eye, you can see that the vessels in it are sharply enlarged, there are more of them, and they are filled with blood.

On the part of the blood vessels and the heart, expansion of the cardiac borders and edema are observed. However, the phenomena of these parts of the body appear late or are absent altogether, because the circulatory system is able to amazingly adapt to the slowly developing changes occurring in the blood.

On the digestive side, there are frequent constipation, a feeling of heaviness and pain in the abdomen. This is due to an enlarged spleen. Mental disturbances are sometimes described. For example, there may be forgetfulness or deeper changes such as a state of daze or agitation. The patient may complain of transient blindness and blurred vision, as well as tinnitus. When pressure is applied the bones are painful. The temperature is within normal limits.

Diagnostics

Most often, polycythemia vera is discovered by chance, during the examination of blood samples, tests of which are ordered by a doctor for various medical reasons.

Once blood tests have identified abnormalities associated with Vaquez disease, further testing must be done.

It is important to diagnose the lungs and heart. A characteristic feature of the disease is an enlarged spleen, so it is necessary to carefully examine the condition of the abdominal cavity.

The main components of the tests carried out in the laboratory are:

clinical blood test;
analysis of the metabolic composition of blood;
blood clotting test.

Also held:

chest x-ray;
echocardiography;
analysis to assess carbon monoxide levels;
hemoglobin test.

Sometimes it is necessary to examine the bone marrow, so a biopsy or bone marrow aspiration is performed. It is also recommended to test the JAK2 gene. It is not necessary to check EPO levels, although this can sometimes help in making a diagnosis. Typically, the primary form of the disease is characterized by a low level of EPO, however, with tumors that secrete EPO, the level may, on the contrary, be higher.

The results must be interpreted with caution because high levels of EPO may be a response to chronic hypoxia if this factor is the main cause of Vaquez disease.

Treatment

Treatment for secondary Vaquez disease depends on the cause. If the patient has chronic hypoxia, supplemental oxygen may be provided. Other treatments usually target the cause of the disease.

For those diagnosed with the primary form of the disease, it is important to take some simple steps to help alleviate your condition at home. For example, you should maintain a sufficient balance of water in the body, as this will help avoid dehydration and increased blood concentration.

There are no restrictions regarding physical activity. With an enlarged spleen, it is important to avoid contact types of physical activity and sports, since the spleen cannot be ruptured or damaged. It is also important not to eat foods that contain iron.

The main therapy is bloodletting, the purpose of which is to maintain an acceptable hematocrit, in women it should be 42%, in men 45%. Initially, bloodletting is done every two or three days, with 250-500 milliliters of blood removed, meaning each procedure. If the goal is achieved, the procedure is performed less frequently in order to only maintain the achieved level.

Aspirin is also used in treatment, which reduces the risk of blood clotting, and therefore the formation of blood clots. However, this drug should not be used by people who have a history of bleeding.

Consequences

The course of the disease is divided into three phases.

The initial phase lasts several years. At this time, the symptoms of polycythemia are mild or absent altogether.
Erythremic phase. During this period, not only classic signs develop, but also major complications. This phase can last for several years, during which the majority of patients die.
The occurrence of myelosclerosis, and sometimes leukemia.

It can be said that the survival period has increased, this is especially true for younger patients. The average life expectancy, based on the date of diagnosis, is 13 years. The main cause of death is vascular complications.

Prevention

Polycythemia vera is a dangerous disease. Some causes cannot be prevented, although there are several potential preventive measures:

management of lung disease, apnea and heart disease;
avoiding prolonged exposure to carbon monoxide;
to give up smoking.

Of course, if the disease is based on a gene mutation, it is impossible to prevent the consequences, but you need to make every effort to maintain a positive attitude and try to live any life span, pleasing yourself and your loved ones.