Prognosis for polycythemia vera. Polycythemia vera: causes, symptoms and treatment of Malignant polycythemia vera Vaquez 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). There are frequent cases of the disease in both young and childhood. In young people, the disease progresses more unfavorably.


Symptoms:

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

IN clinical course There are several stages:

      *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 associated with water procedures, “good”, slightly elevated red blood counts, ulcer duodenum. 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 high frequency vascular, mainly cerebral, complaints: insomnia, feeling of heaviness in the head, blurred vision,. Epileptiform seizures and paralysis are possible. Patients complain of progressive memory loss. IN initial stage diseases arterial hypertension 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 gastric and duodenal ulcers; their frequency is reported to be different authors, 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 - sharp 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 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 leukocyte formula, 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. Mainly gastrointestinal bleeding, pre-infarction, repeated pulmonary vessels, arterial and repeated venous thrombosis, i.e. Emergency therapy for polycythemia is mainly aimed at stopping and further prevention thrombotic and hemorrhagic complications.

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

Bleedings that give quick clinical effect, can be independent method 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 erythrocytepheresis with replacement of the volume of removed red blood cells 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 increased proliferative activity 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. For basic prophylactic dose aspirin taken 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 characterized by an increase in the number of red blood cells in the blood. The disease is a rare form of leukemia. This disease can be either primarily caused or secondary to the influence of certain underlying causes. Both primary and secondary polycythemia are quite serious diseases that can lead to serious consequences and chronic complications.

Polycythemia is the process of increasing the number of red blood cells in the blood. In polycythemia, the level of hemoglobin (HGB), hematocrit (HCT) or red blood cells blood cells(red blood cells) may be higher than the normal level during the study general analysis blood (CBC). A hemoglobin level of more than 16.5 g/dL (grams per deciliter) in women and more than 18.5 g/dL in men suggests polycythemia. As for the hematocrit level, a value exceeding 48 in women and 52 in men indicates polycythemia.

The production of red blood cells (erythropoiesis) occurs in the bone marrow and is regulated by a series of sequential processes. One of the most important enzymes regulating this process, called erythropoietin (EPO). Most EPO is produced by the kidneys, and a smaller portion is produced in the liver. Polycythemia may result from internal problems with the production of red blood cells. This condition is called primary polycythemia. If polycythemia is caused by another problem, the condition is referred to as secondary polycythemia. In the vast majority of cases, polycythemia is secondary and caused by other diseases. Primary polycythemia is a relatively rare condition.

Primary causes of polycythemia

At primary polycythemia, Congenital or acquired disorders with the production of red blood cells lead to polycythemia. The two main conditions that belong with this category are polycythemia vera (PV or polycythemia red vera PRV) and primary familial congenital polycythemia (PFCP).

  • Polycythemia vera (PV) is associated with genetic mutation in the JAK2 gene, which is believed to increase the sensitivity of bone marrow cells to EPO, resulting in increased production of red blood cells. In this condition, levels of other types of blood cells (white blood cells and platelets) are often increased.
  • Primary familial and congenital polycythemia (PFCP) is a condition associated with a mutation in the EPOR gene and causes increased production of red blood cells in response to EPO.

Polycythemia vera is a disease with a purely tumor genesis. The fundamental thing in this disease is that stem cells in the red bone marrow are affected, or rather the progenitor cells of blood cells (also called pluripotent stem cells). As a result, the number of red blood cells and other formed elements (platelets and leukocytes) increases sharply in the body. But since the body is adapted to a certain norm of their content in the blood, any excess of the limits will entail certain disorders in the body.

Polycythemia vera has a rather malignant course and is difficult to treat. This is explained by the fact that it is almost impossible to influence the main cause of polycythemia vera - mutated stem cell with high mitotic activity (ability to divide). Bright and characteristic feature polycythemia will be plethoric syndrome. It is conditioned high content erythrocytes in the stream. This syndrome is characterized by a purplish-red coloration of the skin with severe itching.

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

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

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

    • IIA – without myeloid transformation of the spleen. Erythrocytosis, thrombocytosis, and sometimes pancytosis are noted; according to the myelogram - hyperplasia of all hematopoietic germs, pronounced megakaryocytosis. The duration of the advanced stage of erythremia is 10-20 years.
    • IIB – with the presence of myeloid metaplasia of the spleen. Hypervolemia, hepato- and splenomegaly are pronounced; in peripheral blood - pancytosis.
  • Stage III (anemic, posterythremic, terminal). Characterized by anemia, thrombocytopenia, leukopenia, myeloid transformation of the liver and spleen, secondary myelofibrosis. Possible outcomes of polycythemia into other hemoblastoses.

Secondary causes of polycythemia

Unlike primary polycythemia, in which overproduction of red blood cells occurs as a result of hypersensitivity or reaction to EPO (often to lower than normal levels of EPO), secondary polycythemia excess quantity red blood cells are formed due to high levels of EPO circulating in the bloodstream.

The main causes of higher than normal EPO levels are chronic hypoxia (insufficient oxygen levels in the blood over a long period of time), insufficient oxygen supply due to abnormal red blood cell structure, and tumors that produce excessively high amounts of EPO.

A number of common conditions that can lead to elevated erythropoietin levels due to chronic hypoxia or poor oxygen supply include:

  • Chronic obstructive pulmonary disease (COPD, emphysema, chronic bronchitis),
  • Pulmonary hypertension,
  • hypoventilation syndrome,
  • Congestive heart failure,
  • Obstructive sleep apnea,
  • Insufficient blood flow to the kidneys
  • Accommodation in high mountain areas.

2,3-BPG deficiency is a condition in which the hemoglobin molecules in red blood cells have an abnormal structure. In this condition, hemoglobin acquires a higher ability to attach oxygen molecules and a low ability to release oxygen in the body tissues. This results in the production of higher numbers of red blood cells - in response to what the body's tissues perceive as insufficient oxygen levels. The result is a higher number of circulating red blood cells.

Some tumors tend to secrete excessively high amounts of EPO, leading to polycythemia. Common tumors that release EPO are:

  • Liver cancer (hepatocellular carcinoma),
  • Kidney cancer (renal cell carcinoma),
  • Adrenal adenoma or adenocarcinoma,
  • Uterine cancer.

There are also milder conditions that can lead to increased EPO secretion, such as kidney cysts and renal obstruction. Can lead to polycythemia chronic exposure carbon monoxide. Hemoglobin has a higher ability to attach carbon monoxide molecules than oxygen molecules. Therefore, when carbon monoxide molecules attach to hemoglobin, erythrocytosis (increased levels of red blood cells and hemoglobin) can occur as a reaction - to compensate for the lack of oxygen delivery by existing hemoglobin molecules. A similar situation can occur with carbon dioxide during prolonged smoking of cigarettes.

Polycythemia in newborns (neonatal polycythemia) often occurs when maternal blood is transferred from the placenta or through a blood transfusion. Prolonged insufficiency of oxygen transport to the fetus (intrauterine hypoxia) due to placental insufficiency can also lead to neonatal polycythemia.

Relative polycythemia

Relative polycythemia is characterized by a condition in which the volume of red blood cells becomes elevated due to an increase in the concentration of red blood cells in the blood as a result of dehydration. In such situations (vomiting, diarrhea, increased sweating) The number of red blood cells in the blood is normal, but due to the loss of fluid associated with the blood (plasma), the level of red blood cells in the blood may appear elevated.

Stress polycythemia

This is a condition that can be found in middle-aged men who work hard and have high levels of anxiety. The disease develops due to low plasma volume, although red blood cell volume may be normal. Another name for this condition is risk factor polycythemia.

Some of the risk factors for polycythemia are:

  • Chronic hypoxia;
  • Long-term smoking;
  • Family history and genetic predisposition;
  • Accommodation in high mountain areas;
  • Long-term exposure to carbon monoxide (working in mines, service staff garage, residents of the most polluted cities),
  • Ashkenazi Jewish origin(The incidence of polycythemia may be increased due to genetic predisposition).

Symptoms of polycythemia

Symptoms of polycythemia can vary widely. Some people with polycythemia may have no symptoms at all. In secondary polycythemia, most symptoms are related to the underlying disease responsible for the polycythemia.

Symptoms of polycythemia may be vague and very general character. Some important symptoms:

  • Easy bruising;
  • Easy bleeding;
  • Blood clots (potentially leading to heart attacks, strokes, blood clots in the lungs [pulmonary embolism]);
  • joint and bone pain (hip pain or rib pain);
  • Itching after taking a shower or bath;
  • Fatigue;
  • Stomach ache.

When to Seek Medical Help

People with primary polycythemia need to be aware of some potentially serious complications they may experience. Blood clots (heart attacks, strokes, blood clots in the lungs [pulmonary embolism] or legs [deep vein thrombosis]) and uncontrolled bleeding (nosebleeds, gastrointestinal bleeding) usually require immediate attention medical attention by the attending physician or department emergency care. Patients with primary polycythemia usually need to take care of primary health care, consultations with internists, family doctors, hematologists (doctors who specialize in blood diseases).

Conditions leading to secondary polycythemia can be managed with the help of primary care physicians and internists in addition to specialists. For example, people with chronic lung disease can see their specialist (pulmonologist) regularly, and people with chronic heart disease can see a cardiologist regularly.

Analyzes and tests

In most cases, polycythemia can be discovered incidentally during a routine blood sample test ordered by a doctor due to other medical reasons. Further research may be needed to find the causes of polycythemia.

When evaluating patients with polycythemia, a detailed medical history, physical examination, family history, social and occupational history are very important. During a medical examination Special attention may be given to the heart and lung examination. An enlarged spleen (splenomegaly) is one of the characteristic features of polycythemia, so a thorough examination of the abdominal cavity is carried out so as not to miss an enlarged spleen, which is of great importance.

Routine blood tests, including clinical analysis blood tests (CBC), blood clotting tests, and blood metabolic tests are the main components of laboratory tests when assessing the causes of polycythemia. Other typical tests to help determine possible reasons polycythemia include a chest x-ray, electrocardiogram (ECG), echocardiography, hemoglobin test, and carbon monoxide level measurement.

In polycythemia, other blood cells are usually also affected, such as abnormally high numbers of white blood cells (leukocytosis) and platelets (thrombocytosis). Sometimes a bone marrow test (bone marrow aspiration or biopsy) is necessary to examine the production of blood cells in the bone marrow. The guidelines also recommend testing for the JAK2 gene mutation as diagnostic criterion for polycythemia.

Checking your EPO level is not mandatory, but can sometimes provide useful information. In primary polycythemia, EPO levels are usually low, while in EPO-secreting tumors the levels may be higher than normal. The results must be interpreted with caution, as EPO levels may be correspondingly high in response to chronic hypoxia if this is the underlying cause of polycythemia.

Treatment of polycythemia

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

Treatment of primary polycythemia plays a role important role in improving disease outcomes.

Treatment at home

For people with primary polycythemia, some simple steps can be taken at home to control potential symptoms and to avoid possible complications.

  • It is important to maintain sufficient fluid balance in the body to avoid further dehydration and increased blood concentration. In general, there are no restrictions on physical activity.
  • If a person has an enlarged spleen, contact sports should be avoided to prevent spleen damage and rupture.
  • It is best to avoid consuming foods containing iron, as this may increase red blood cell levels.

Treatment and therapy

The mainstay of therapy for polycythemia remains bloodletting. The goal of phlebotomy is to maintain hematocrit around 45% in men and 42% in women. Initially, it may be necessary to perform phlebotomies every 2 to 3 days and remove 250 to 500 milliliters of blood with each procedure. Once the goal is achieved, phlebotomy can be performed less frequently to maintain the level achieved.

The commonly recommended drug for treating polycythemia is hydroxyurea (hydrea). This drug is especially recommended for people at risk blood clot formation. In patients over 70 who have both an increased platelet count (thrombocytosis) and cardiovascular diseases, the use of hydroxyurea makes the results more favorable. Hydroxyurea is also recommended for patients who cannot tolerate phlebotomy.

Aspirin is also used in the treatment of polycythemia to reduce the risk of blood clotting (blood clotting). Its use should generally be avoided by people who have any history of bleeding. Aspirin is usually used in combination with bloodletting.

Following actions

At the beginning of phlebotomy treatment, careful and regular monitoring is recommended until an acceptable hematocrit level is achieved. Thereafter, phlebotomies may be performed as needed to maintain an appropriate hematocrit level, based on each patient's response to this therapy.

Some of the complications of primary polycythemia, as listed below, often require closer observation and monitoring. These complications include:

  • Formation of blood clots (thrombosis), which cause heart attacks, strokes, blood clots in the legs and lungs, or blood clots in the arteries. These events are considered the leading causes of death from polycythemia.
  • Severe blood loss or bleeding.
  • Transformation of polycythemia into blood cancer (for example, leukemia, myelofibrosis).

Prevention

Many of the causes of secondary polycythemia cannot be prevented. However, there are some potential preventive measures:

  • To give up smoking;
  • Avoiding long-term exposure to carbon monoxide;
  • Proper management of diseases such as chronic diseases lungs, heart disease or obstructive sleep apnea.

Primary polycythemia due to gene mutations is usually not preventable.

Forecast

The outlook for primary polycythemia without treatment is generally poor, with a life expectancy of about 2 years. However, prognoses improve significantly and increase life expectancy by more than 15 years when phlebotomy is used. Prognoses of secondary polycythemia largely depend on the underlying disease.

Hepatosplenomegaly may also develop. The diagnosis is established on the basis of a general blood test, testing for the presence of mutations of the 1AK2 gene and clinical criteria. Treatment includes the use of low-dose aspirin in all patients and myelosuppressive drugs in high-risk patients. Bloodletting used to be the standard of care, but its role is now controversial.

What is polycythemia vera

Polycythemia vera is the most common myeloproliferative disorder. Its incidence in the United States is 1.9/100,000, with the risk increasing with age. IP occurs somewhat more often in men. IP is very rare in children.

Pathophysiology of polycythemia vera

In IP, there is increased proliferation of all cell lineages. In this regard, PV is sometimes called panmyelosis due to the increase in representatives of all 3 peripheral blood cell lineages. The increased production of one erythrocyte lineage is called erythrocytosis. Isolated thrombocytosis can be observed with PV, but more often it occurs for other reasons (secondary erythrocytosis).

Extramarrow hematopoiesis can occur in the spleen, liver and other organs that can serve as a site for the formation of blood cells. The turnover of peripheral blood cells increases. Ultimately, the disease may enter a wasting phase, the manifestations of which are indistinguishable from primary myelofibrosis. Transformation into acute leukemia It is rare, but the risk increases with the use of alkylating agents and radioactive phosphorus. The latter should be used only in rare cases or not at all.

Complications. With IP, the volume of circulating blood increases and its viscosity increases. Patients are prone to developing thrombosis. Thrombosis can occur in most vessels, leading to strokes, transient ischemic attacks, or Budd-Chiari syndrome. In the past, experts believed that increased blood viscosity was a risk factor for thrombosis. Latest Research indicate that the risk of thrombosis may primarily depend on the severity of leukocytosis. However, this hypothesis remains to be tested in prospective studies specifically designed for this purpose.

Platelet function may be impaired, increasing the risk of bleeding. Increased cell turnover can cause uric acid levels to rise, thereby increasing the risk of gout and kidney stones.

Genetic factors. Clonal hematopoiesis is distinctive feature IP. This indicates that the cause of proliferation is a mutation in hematopoietic stem cells. The JAK2 V617F mutation (or one of several other rarer JAK2 gene mutations) is found in almost all patients with PV. However, it can be said with almost complete certainty that there are other mutations that underlie the disease. They maintain JAK2 protein in a state of constant activity, which leads to excessive cell proliferation regardless of erythropoietin concentration.

Signs and symptoms of polycythemia vera

It is discovered or accidentally high hemoglobin or by symptoms of increased viscosity, such as fatigue, loss of concentration, headaches, dizziness, dark vision, itchy skin, nosebleeds. Sometimes it manifests itself as diseases of the peripheral arteries or damage to the blood vessels of the brain. Patients are often plethoric, and most have a palpable enlarged spleen. Thrombosis and often peptic ulcers, sometimes complicated by bleeding, may occur.

Polycythemia vera is often asymptomatic. Sometimes an increase in the number of circulating red blood cells and an increase in viscosity are accompanied by weakness, lightheadedness, blurred vision, fatigue and shortness of breath. A common symptom is itching, especially after a shower. There may be facial flushing and dilated retinal veins, as well as redness and tenderness of the palms and soles, sometimes accompanied by digital ischemia (erythromelalgia). Hepatomegaly is often observed; splenomegaly (sometimes pronounced) occurs in 75% of patients.

Thrombosis may cause symptoms in the affected area (eg, neurological pathology due to stroke or transient ischemic attacks ah, pain in the legs, swelling of the legs or both with thrombosis of the vessels of the lower extremities, unilateral loss of vision with thrombosis of the retinal vessels).

Bleeding occurs in 10% of patients.

Accelerated metabolism can cause low-grade fever and lead to weight loss, which indicates the transition of the disease to the wasting phase. The latter is clinically indistinguishable from primary myelofibrosis.

Diagnosis of polycythemia vera

  • General blood analysis.
  • Testing for JAK2 gene mutations.
  • In some cases, bone marrow examination and determination of plasma erythropoietin concentration.
  • Application of WHO criteria.

Suspicion of PV often arises already at the stage of a complete blood count, but it should also arise in the presence of corresponding symptoms, in particular Budd-Chiari syndrome (it is worth noting, however, that in some patients Budd-Chiari syndrome develops before the hematocrit rises). Neutrophilic leukocytosis and thrombocytosis are common but not obligatory manifestations. Patients with an isolated increase in hemoglobin or erythrocytosis may also have PV, but in such cases secondary erythrocytosis should be ruled out first. PV may also be suspected in some patients with normal hemoglobin levels but microcytosis and signs of iron deficiency. This combination of features may occur when hematopoiesis occurs in the presence of limited iron stores, which is a hallmark of some cases of PV.

WHO has developed new diagnostic criteria. Therefore, patients suspected of having PV should usually be tested for JAK2 gene mutations.

Testing a bone marrow sample is not always necessary.

In cases where it is carried out, panmyelosis, large size and crowding of megakaryocytes usually attract attention in the bone marrow. In some cases, reticulin fibers are found. However, no changes in the bone marrow allow us to distinguish IP from others with absolute certainty. pathological conditions(for example, congenital familial polycythemia), accompanied by erythrocytosis.

Plasma erythropoietin concentrations in patients with PV are usually low or at the lower limit of normal. An increased concentration indicates the secondary nature of erythrocytosis.

In some cases, endogenous colony formation of erythroid cells is tested in vitro (red blood cell precursors taken from the peripheral blood or bone marrow of patients with PV, unlike those from healthy people, can form erythroid cells in culture without the addition of erythropoietin).

Determination of total erythrocyte mass using chromium-labeled erythrocytes can help distinguish polycythemia vera from relative polycythemia and also distinguish polycythemia from myeloproliferative disorders. However, the technique for performing this test is complex. It is not usually carried out given its limited availability and the fact that it is standardized for use at sea level only.

TO nonspecific abnormalities laboratory parameters that may be observed in PV include an increase in the concentration of vitamin B 12 and an increase in B 12 binding capacity, as well as hyperuricemia and hyperuricosuria (present in > 30% of patients), increased expression of the PRV-1 gene in leukocytes, decreased expression of the C gene -mpl (thrombopoietin receptor) in megakaryocytes and platelets. These tests are not necessary to make a diagnosis.

Diagnosis of polycythemia is discussed in the subsection “Elevated hemoglobin levels.” For diagnosis, an increase in erythrocyte mass in the absence of reasons for secondary erythrocytosis and splenomegaly is important. Neutrophil and platelet counts are often increased, an abnormal karyotype may be detected in the bone marrow, and in vitro culture of bone marrow exhibits autonomous growth in the absence of growth factor supplementation.

Prognosis of polycythemia vera

In general, PV is associated with a shortened life expectancy. The median survival for all patients is 8 to 15 years, although many live much longer. A common cause of death is thrombosis. The next most common complications are myelofibrosis and the development of leukemia.

The average survival after diagnosis for patients receiving treatment exceeds 10 years. Some patients live more than 20 years; however, cerebrovascular and coronary complications occur in 60% of patients. The disease may progress to another myeloproliferative disorder; myelofibrosis develops in 15% of patients. Acute leukemia appears mainly in patients treated with radioactive phosphorus.

Treatment of polycythemia vera

  • Treatment with aspirin,
  • Possible bleeding
  • Possible myelosuppressive therapy.

Therapy should be selected individually, taking into account age, gender, health status, clinical manifestations and results of hematological studies. Patients are divided into high-risk group and low-risk group. The high-risk group includes patients >60 years of age with a history of thrombosis or transient ischemic attack, or both.

Aspirin. Aspirin reduces the risk of thrombosis. Therefore, patients undergoing phlebotomy or phlebotomy only should receive aspirin. Higher doses of aspirin carry an unacceptably high risk of bleeding.

Bleeding. Phlebotomy was the mainstay of treatment for patients in both high- and low-risk groups because experts believed it reduced the likelihood of thrombosis. The rationale for phlebotomy is currently controversial, as new research indicates that hemoglobin levels may not correlate with the risk of thrombosis. Some clinicians no longer adhere to strict guidelines regarding phlebotomy. Bloodletting is still one of the possible alternatives for any patient. In a small proportion of patients with flushed skin and increased blood viscosity, phlebotomy may reduce symptoms. The standard hematocrit threshold above which phlebotomy is performed is >45% in men and >42% in women. Once the hematocrit value falls below the threshold, it is checked monthly and maintained at the same level by additional phlebotomies, which are performed as needed. If necessary, the intravascular volume is replenished with crystalloid or colloid solutions.

Myelosuppressive therapy is indicated for patients at high risk.

Radioactive phosphorus (32P) for a long time has been used to treat PV. The effectiveness of treatment ranges from 80 to 90%. Radioactive phosphorus is well tolerated and requires fewer office visits once disease control is achieved. However, the use of radioactive phosphorus is associated with an increased risk of developing acute leukemia. Leukemia occurring after such therapy is often resistant to induction therapy and is always incurable. Thus, the use of radiophosphorus requires careful patient selection (for example, the drug should be prescribed only to those patients whose life expectancy due to concomitant pathology does not exceed 5 years). It should be prescribed only in rare cases. Many doctors don't use it at all.

Hydroxyurea inhibits the enzyme ribonucleoside diphosphate reductase. It is also used to suppress bone marrow activity. There is no clear data on the ability of hydroxyurea to provoke leukemia. However, the possibility of transformation into leukemia exists, although it is small. Patients undergo weekly blood tests. After reaching a steady state, the intervals between blood tests are increased to 2 weeks and then to 4 weeks. If your white blood cell count drops<4000/мкл или уровень тромбоцитов падает <100 000/мкл, лечение приостанавливают, а когда упомянутые показатели приходят в норму, возобновляют в дозе на 50% меньше исходной. Дозу гидроксимочевины рационально титровать до достижения практически нормальной величины гематокрита, однако данные в пользу такого титрования отсутствуют. Нормализация уровня лейкоцитов, вероятно, более важна, но как и в предыдущем случае, эта гипотеза не была подтверждена проспективными исследованиями. Подтверждения тому, что нормализация уровня тромбоцитов необходима, нет, и некоторые врачи не увеличивают дозу гидроксимочевины до тех пор, пока число тромбоцитов остается <1,5 млн/мкл. Острая токсичность - нередкое явление. В некоторых случаях у пациентов возникает сыпь, лихорадка, изменения внешнего вида ногтей, кожные язвы.

Interferon alfa-2b is used in cases where hydroxyurea cannot maintain the required level of blood cells or when the latter is ineffective. It is worth noting that pegylated interferon alfa-2b is generally well tolerated. This drug targets the disease at the molecular level and has relatively low toxicity.

Alkylating drugs can provoke the development of leukemia, so they should be avoided.

Several JAK2 pathway inhibitors are currently in clinical development. They are mainly studied in patients with late stages of myelofibrosis.

Treatment of complications. Hyperuricemia is corrected with allopurinol if elevated uric acid concentrations are accompanied by symptoms or if patients are receiving concomitant myelosuppressive therapy. You can try to control the itching with antihistamines, however, sometimes this is difficult to achieve. Myelosuppression is often the most effective method. Examples of potentially effective therapy include cholestyramine, cyproheptadine, cimetedine, or paroxetine.

Bloodletting quickly relieves symptoms of hyperviscosity. 400-500 ml of blood are removed - and venesection is repeated every 5-7 days until the hematocrit decreases by 45%, removing 400-500 ml of blood with each procedure (less if the patient is elderly). Less frequent but regular bloodletting maintains this level until hemoglobin becomes less due to iron deficiency. The underlying myeloproliferation is suppressed with hydroxycarbamide or interferon. Treatment with radioactive phosphorus (5 mCi 32P intravenously) is reserved for older patients, as it increases the risk of transformation into acute leukemia by 6-10 times. Treatment of bone marrow proliferation may reduce the risk of vascular occlusion, control splenic size, and reduce transformation to myelofibrosis. Aspirin reduces the risk of thrombosis.

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

ICD-10 code

D45 Polycythemia vera

Epidemiology

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

Causes of polycythemia vera

Pathogenesis

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

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

Symptoms of polycythemia vera

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

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

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

Complications and consequences

Diagnosis of polycythemia vera

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

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

Diagnostic criteria for polycythemia vera

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

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

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

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

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

Treatment of polycythemia vera

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

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

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

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

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

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

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

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

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

Treatment of complications of polycythemia vera

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

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

General information about the disease

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

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

Causes of the disease

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

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

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

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

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

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

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

It is worth noting that some oncological diseases can also provoke the development of erythremia, such as tumors the following bodies affect the production of red blood cells:

  • liver;
  • kidney;
  • adrenal glands;
  • uterus.

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

Symptoms of polycythemia

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

The main signs of erythrocytosis include:

  • a sharp drop in visual acuity;
  • frequent migraines;
  • dizziness;
  • noise in ears;
  • sleep problems;
  • “icy” fingers.

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

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

Doctors also highlight specific symptoms of the specified disease:

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

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

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

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

Diagnosis of the disease

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

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

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

Treatment of erythrocytosis

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

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

  • radioactive phosphorus;
  • anagrelide;
  • interferon;
  • Hydroxyurea.

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

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

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

Complications of polycythemia

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

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

Preventive measures

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

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

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

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