Life expectancy with polycythemia vera. When to see a doctor? So, the diagnosis has been made... What next?

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. On late stages disease in approximately 25% of patients, the life expectancy of erythrocytes decreases, and inadequate hematopoiesis occurs. 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. Reduction life cycle cells 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

Complications of hyperuricemia (eg, gout, kidney stones) typically occur in the later stages of polycythemia vera. Hypermetabolism can cause low-grade fever and weight loss.

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 whole blood, an increase in Ht levels can also be caused by a decrease in plasma volume (relative or false erythrocytosis, which is 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 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 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 increased level EPO or microhematuria should be evaluated with CT to look for renal pathology or other EPO-secreting tumors leading to secondary erythrocytosis. Unlike bone marrow healthy people, culture of bone marrow from patients with polycythemia vera can form red blood cell colonies without the addition of EPO (ie, positive endogenous colonies).

Although with polycythemia vera there may be various abnormalities in other laboratory tests, most of them are not necessary: ​​vitamin B12 levels and B12-binding capacity are often elevated, but these tests are not economically feasible. A bone marrow biopsy is also usually not necessary: ​​when performed, it usually reveals hyperplasia of all blood lines, accumulations of megakaryocytes, decreased iron stores (best assessed in bone marrow aspirate) and increased reticulin levels. Hyperuricemia and hyperuricosuria occur in more than 30% of patients. 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 erythrocytosis, for which myelosuppressive therapy may be indicated, it is very important to diagnose 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 of therapy. Bloodletting is the therapy of choice in women of childbearing age and patients under 40 years of age, as it does not have a mutagenic effect. Typically, the indication for phlebotomy is an Ht level greater than 45% in men and greater than 42% in women. At the beginning of therapy, 300-500 ml of blood is exfused every other day. A smaller volume of exfusions (200-300 ml twice a week) is performed in elderly patients, as well as patients with concomitant cardiac and cerebrovascular pathology. Once the hematocrit has been reduced below the threshold value, it should be determined once a month and maintained at this level with additional bloodletting (as needed). Before carrying out planned 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 selection of patients (for example, it is carried out only in patients with high probability death due to other disorders within 5 years).

Hydroxyurea is an inhibitor of the enzyme ribonucleoside diphosphate reductase - long time has been used for myelosuppression, 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 to determine general analysis blood. 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. Average dose drug 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 Myelosuppressive therapy is often a complication of this complication. 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 bath skin must be wiped carefully. Aspirin relieves the symptoms of erythromelalgia. Elective surgical interventions for polycythemia vera should be performed only after the Ht level has decreased

Forecast

Without treatment, 50% of symptomatic patients die within 18 months of diagnosis. With treatment, median survival exceeds 10 years, and young patients can live for several decades. Most common cause The death of patients is thrombosis, the next most common causes of death are complications of myeloid metaplasia and the transition of the disease to leukemia.

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

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

Causes of the disease

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

Classification of the disease

There are two groups of the disease:

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

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

Polycythemia: symptoms of the disease

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

Dilatation of saphenous veins

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

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

Itchy skin

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

Erythromelalagia

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

Splenomegaly (enlarged spleen)

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

and stomach

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

Blood clots in large vessels

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

Bleeding gums

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

Gout

When leveling up uric acid its salts are deposited in various joints and provoke a sharp pain syndrome.

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

Deterioration of the general condition of the body

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

Diagnostics

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

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

increased hemoglobin level - up to 240 g/l;

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

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

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

Polycythemia: treatment

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

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

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

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

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

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

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

Polycythemia in newborns

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

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

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

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

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

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

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

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

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

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

Causes and mechanisms of development

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

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

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

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

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

Symptoms

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

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

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

Thrombotic complications can lead to thrombophlebitis of the mesenteric veins with the development of corresponding symptoms. It is possible that violations may occur cerebral circulation.

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

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

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

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

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

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

Treatment

Bloodletting relieves the condition of patients with polycythemia.

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

The treatment program includes the following areas:

• bloodletting;
• erythrocytapheresis;
• cytostatic drugs;
• symptomatic treatment.

Bloodletting

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

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

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

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

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

Erythrocytapheresis

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

Cytostatic therapy

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

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

Symptomatic therapy

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

For severe bleeding, aminocaproic acid is prescribed, fresh frozen plasma, hemostatic sponge locally.

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

In case of cerebrovascular accident, hypertension, peptic ulcer stomach are used appropriate drug regimens. For treatment skin itching are used . Cimetidine (an H2 receptor blocker) is sometimes effective.

Indications for removal of the spleen for erythremia.

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

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

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

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

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

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

Primary causes of polycythemia

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

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

Secondary causes of polycythemia

Secondary polycythemia develops due to high levels circulating erythropoietin. The main reasons for increased erythropoietin are: chronic hypoxia ( low level oxygen in the blood during long period time), poor oxygen delivery due to abnormal red blood cell structure and tumor.

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

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

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

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

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

Relative polycythemia

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

Polycythemia due to stress

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

Risk factors for polycythemia

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

Symptoms of polycythemia

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

When to see a doctor?

People with primary polycythemia should be aware of some potential serious complications that may happen. Formation of blood clots (heart attack, stroke, blood clots in the lungs or legs) and uncontrolled bleeding ( nose bleed, gastrointestinal bleeding), as a rule, require immediate medical attention by the attending physician.

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

Blood test for polycythemia

It is very easy to diagnose polycythemia conventional analysis blood. When assessing a patient with polycythemia, a complete medical examination. It is especially important to examine the lungs and heart. An enlarged spleen (splenomegaly) is a characteristic feature of polycythemia. Therefore, it is very important to evaluate for splenic enlargement.

To evaluate the cause of polycythemia, it is important to full analysis blood, determine blood coagulation profile and metabolic panels. Other typical tests to determine possible reasons polycythemia include: x-ray chest, electrocardiogram, echocardiography, hemoglobin analysis and carbon monoxide measurement.

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

Treatment of polycythemia

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

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

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

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

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

Complications of polycythemia

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

Prevention of polycythemia

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

Primary polycythemia due to gene mutations is usually unavoidable.

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

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

The disease occurs mainly in elderly people ( average age onset is approximately 60 years old), but is also diagnosed in young people and children. For patients young age more typical severe course diseases. Polycythemia vera affects several men more women, however, for young patients the inverse proportionality is typical.

Causes and risk factors

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

Risk factors include:

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

Forms of the disease

Polycythemia vera is of two types:

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

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

Stages of the disease

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

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

Symptoms

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

In later stages of the disease, you may experience:

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

Diagnostics

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

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

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

Diagnostic criteria for polycythemia vera:

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

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

Required differential diagnosis with absolute and relative (false) erythrocytosis, neoplasms, hepatic vein thrombosis.

Treatment

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

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

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

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

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

Possible complications and consequences

Polycythemia vera can be complicated by:

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

Forecast

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

Prevention

Since the exact causes of the disease are unclear, effective methods Prevention of polycythemia vera has not yet been developed.

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