Polycythemia Vera | Johns Hopkins Medicine

What is polycythemia vera?

Polycythemia vera is a rare blood disorder in which there is an increase in all blood cells, particularly red blood cells. The increase in blood cells makes your blood thicker. This can lead to strokes or tissue and organ damage.

What causes polycythemia vera?

Polycythemia vera is caused by a genetic change (mutation) that develops during your lifetime. It is not an inherited genetic disorder. In most cases it is not known why this happens.

What are the symptoms of polycythemia vera?

When you have more blood and it is thicker than normal, problems can occur. Each person’s symptoms may vary. Symptoms may include:

• Lack of energy (fatigue) or weakness
• Headache
• Dizziness
• Shortness of breath and trouble breathing while lying down
• Vision problems, such as double vision, blurred vision, and blind spots
• Inability to concentrate
• Night sweats
• Face and becomes red and warm (flushed)
• Nosebleeds
• Bleeding gums
• Too much menstrual bleeding
• Coughing up blood
• Bruising
• Itchy skin (often after a hot bath)
• Gout
• Numbness
• High blood pressure

These symptoms may look like other blood disorders or health problems. Always see your healthcare provider for a diagnosis.

How is polycythemia vera diagnosed?

Your healthcare provider will take your medical history and give you a physical exam. Your provider may also do blood tests. These tests will check the increased number of red blood cells in your body. They will also check if there are other conditions that could cause your higher red blood cell count.

How is polycythemia vera treated?

Your healthcare provider will figure out the best treatment based on:

• Your age, overall health, and medical history
• How sick you are
• How well you handle certain medicines, treatments, or therapies
• If your condition is expected to get worse
• What you would like to do

Treatment may include:

• Phlebotomy. This procedure removes blood from your body. At first this must be done often, such as every week. Once enough blood has been removed to reduce your body’s iron stores (needed to make blood quickly), you will not need this done as often.
• Certain medicines, including chemotherapy. The medicines help to stop your bone marrow from making too many blood cells. They also keep your blood flow and blood thickness closer to normal.

What are the complications of polycythemia vera?

Polycythemia vera can be fatal if not diagnosed and treated. It can cause blood clots resulting in a heart attack, stroke, or pulmonary embolism. Liver and spleen enlargement are other possible complications.

Living with polycythemia vera

There is no cure for polycythemia vera, but proper treatment can help to reduce or delay any problems. Work with your healthcare provider to create a treatment plan that fits your needs. You should also be physically active in order to increase your heart rate and improve your blood flow.

Other ways to improve your blood flow include:

• Stretching your legs and ankles
• Wearing warm gloves and socks during cold weather
• Avoiding extreme heat
• Drinking plenty of water

You should also avoid situations in which you could be hurt, and check your feet for any sores.

Key points about polycythemia vera

• Polycythemia vera is a rare blood disorder in which there is an increase in all blood cells, particularly red blood cells.
• The increase in blood cells makes the blood thicker.
• Thick blood can lead to strokes or tissue and organ damage.
• Symptoms include lack of energy (fatigue) or weakness, headaches, dizziness, shortness of breath, visual disturbances, nose bleeds, bleeding gums, heavy menstrual periods, and bruising.
• Treatment may include medicines and phlebotomy, a procedure that removes extra blood from your body.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• Know the reason for your visit and what you want to happen.
• Before your visit, write down questions you want answered.
• Bring someone with you to help you ask questions and remember what your provider tells you.
• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
• Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
• Ask if your condition can be treated in other ways.
• Know why a test or procedure is recommended and what the results could mean.
• Know what to expect if you do not take the medicine or have the test or procedure.
• If you have a follow-up appointment, write down the date, time, and purpose for that visit.
• Know how you can contact your provider if you have questions.

Polycythemia vera – Symptoms & causes

Overview

Polycythemia vera (pol-e-sy-THEE-me-uh VEER-uh) is a type of blood cancer. It causes your bone marrow to make too many red blood cells. These excess cells thicken your blood, slowing its flow, which may cause serious problems, such as blood clots.

Polycythemia vera is rare. It usually develops slowly, and you might have it for years without knowing. Often the condition is found during a blood test done for another reason.

Without treatment, polycythemia vera can be life-threatening. But proper medical care can help ease signs, symptoms and complications of this disease.

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Symptoms

Many people with polycythemia vera don’t have noticeable signs or symptoms. Some people might develop vague symptoms such as headache, dizziness, fatigue and blurred vision.

More-specific symptoms of polycythemia vera include:

• Itchiness, especially after a warm bath or shower
• Numbness, tingling, burning, or weakness in your hands, feet, arms or legs
• A feeling of fullness soon after eating and bloating or pain in your left upper abdomen due to an enlarged spleen
• Unusual bleeding, such as a nosebleed or bleeding gums
• Painful swelling of one joint, often the big toe
• Shortness of breath and difficulty breathing when lying down

When to see a doctor

Make an appointment with your doctor if you have signs or symptoms of polycythemia vera.

Causes

Polycythemia vera occurs when a mutation in a gene causes a problem with blood cell production. Normally, your body regulates the number of each of the three types of blood cells you have — red blood cells, white blood cells and platelets. But in polycythemia vera, your bone marrow makes too many of some of these blood cells.

The cause of the gene mutation in polycythemia vera is unknown, but it’s generally not inherited from your parents.

Risk factors

Polycythemia vera can occur at any age, but it’s more common in adults between 50 and 75. Men are more likely to get polycythemia vera, but women tend to get the disease at younger ages.

Complications

Possible complications of polycythemia vera include:

• Blood clots. Increased blood thickness and decreased blood flow, as well as abnormalities in your platelets, raise your risk of blood clots. Blood clots can cause a stroke, a heart attack, or a blockage in an artery in your lungs or a vein deep within a leg muscle or in the abdomen.
• Enlarged spleen. Your spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. The increased number of blood cells caused by polycythemia vera makes your spleen work harder than normal, which causes it to enlarge.
• Problems due to high levels of red blood cells. Too many red blood cells can lead to a number of other complications, including open sores on the inside lining of your stomach, upper small intestine or esophagus (peptic ulcers) and inflammation in your joints (gout).
• Other blood disorders. In rare cases, polycythemia vera can lead to other blood diseases, including a progressive disorder in which bone marrow is replaced with scar tissue, a condition in which stem cells don’t mature or function properly, or cancer of the blood and bone marrow (acute leukemia).

Polycythemia

Polycythemia is a chronic disease in which the bone marrow produces an excess of red blood cells. In many patients, the number of platelets and white blood cells also increases. As a result, the blood becomes thicker, more viscous, the blood flow in small vessels is disturbed and the likelihood of the formation of blood clots increases – blood clots that clog the lumen of the vessels and disrupt the blood supply to the organs.

Polycythemia vera is rare and develops slowly. Most often it occurs in people older than 40-50 years, but there are isolated cases in younger people and even in children. In the initial stages, it is asymptomatic, so it is often diagnosed by chance, during an examination associated with another disease.

If left untreated, polycythemia can be life threatening. However, modern approaches to therapy can achieve very good results: patients get rid of most of the negative manifestations of the disease.

Synonyms Russian

Polycythemia vera, polycythemia vera, primary polycythemia, erythremia, Wakez disease, Osler-Vakez disease.

English synonyms

Symptoms

• Weakness.
• Shortness of breath.
• Headaches.
• Frequent bleeding.
• Heaviness in the abdomen.
• Pain in muscles and joints.
• Redness of the skin.
• Itching, especially after taking a warm shower or bath.

General information about the disease

All blood cells are formed in the bone marrow from a single blood stem cell. It gives rise to lymphoid stem cells and myeloid stem cells. Lymphocytes are formed from the lymphoid stem cell, and other types of leukocytes, platelets and erythrocytes are formed from the myeloid stem cell. Mature erythrocytes are biconcave cells that do not have a nucleus. The main function of red blood cells is to carry oxygen from the lungs to the tissues and carbon dioxide from the tissues to the lungs. This function is carried out by hemoglobin, which occupies most of the erythrocyte and gives this cell a characteristic red color. In addition to the respiratory function, erythrocytes are involved in maintaining the acid-base balance, and also carry amino acids, fats, proteins and toxins on their surface. Erythrocytes exist for 120 days and then are destroyed in the liver and spleen.

Erythropoiesis (erythrocyte formation) is a complex multi-stage process, the main regulator of which is the erythropoietin protein. It is produced in the kidneys and partially in the liver, and its amount increases with a decrease in the level of oxygen in the blood (hypoxia). Normally, during hypoxia, the amount of erythropoietin increases, which activates the formation of red blood cells in the bone marrow. However, with polycythemia vera, the level of erythropoietin not only does not increase, but can even be reduced. The increase in the formation of red blood cells is associated with an increase in the sensitivity of bone marrow cells to erythropoietin. The reasons for such changes have not been fully elucidated, however, it is known that in polycythemia vera there are disturbances in the Janus kinase-2 gene and the EpoR gene, which carry information about the number of receptors for erythropoietin and their sensitivity.

Thus, with polycythemia, an excess of red blood cells is formed, the blood volume increases, it becomes thicker. The blood flow in small vessels is disturbed. As a result, blood pressure rises, frequent bleeding occurs, in particular bleeding gums. Due to impaired blood circulation, the tips of the fingers, nose, and mucous membranes acquire a bluish-red tint. The supply of tissues with oxygen is deteriorating, which negatively affects the work of the whole organism. A change in blood viscosity increases the likelihood of thrombosis – blockage of blood vessels by blood clots, which leads to disruption of the functioning of organs and tissues. This can be manifested by a heart attack, stroke. The liver and spleen are enlarged, foci of hematopoiesis appear in them.

Along with true, primary polycythemia, the cause of which is unknown, secondary polycythemia is isolated, in which an increase in red blood cell production is caused by an increased level of erythropoietin in response to a lack of oxygen in the tissues, for example, in chronic bronchitis or heart disease. In this case, polycythemia is only a consequence and disappears with the treatment of the underlying disease.

Who is at risk?

• Men.
• People over 40 years of age.
• Representatives of the Caucasian race.
• Patients whose relatives had polycythemia.

Diagnostics

Laboratory diagnostics

• Complete blood count (without leukocyte formula and ESR)
• Erythrocytes. Their level is usually significantly increased.
• Leukocytes. Their concentration can be increased mainly due to neutrophils.
• Platelets. Platelet levels may also be elevated.
• Hemoglobin is a protein that is part of red blood cells and is involved in the transport of oxygen. In polycythemia, it is usually elevated.
• Hematocrit. This is the ratio of red blood cells to total blood volume. In polycythemia, it is usually elevated.
• Reticulocytes are immature erythrocytes. They enter the blood from the bone marrow and mature within 2-3 days, turning into mature red blood cells. With polycythemia, their excess can be observed, which indicates their accelerated formation in the bone marrow.
• Erythropoietin. With true polycythemia is usually greatly reduced.
• Vitamin B ₁₂ . It plays an important role in the synthesis of nucleic acids (compounds involved in the storage and transmission of hereditary information) necessary for the formation of red blood cells. An increase in its level in polycythemia indicates the intensity of the formation of red blood cells.
• The main blood electrolytes are sodium, potassium, calcium.

Polycythemia vera: causes, symptoms and treatment

Contents

• 1 Polycythemia vera
  • 1.1 What is polycythemia vera
  • 1.2 Causes of polycythemia vera
  • 1.3 Risk factors for polycythemia vera

  90 025 1.4 Symptoms of polycythemia vera

  • 1. 5 Diagnosis of polycythemia vera
  • 1.6 Basic treatment of polycythemia vera
  • 1.7 Medical treatment of polycythemia vera
  • 1.8 Drug use for polycythemia vera
  • 1.9 Influence of diet and lifestyle on polycythemia vera
  • 1.10 Exercise in polycythemia vera
  • 1.11 Complications of polycythemia vera
  • 1.12 Prognosis in polycythemia vera
  • 1.12 13 Related videos:
  • 1.14 Q&A:
    • • 1.14.0.1 What symptoms may indicate the presence of polycythemia vera?
      • 1.14.0.2 What are the causes of polycythemia vera?

Polycythemia vera is a rare disease characterized by an increase in the number of red blood cells, hemoglobin and total blood volume in the body. The article discusses the causes, symptoms and methods of treatment of this disease. Learn more about polycythemia vera and its health implications.

Polycythemia vera, also known as Weyler-Osler polycythemia, is a circulatory disorder characterized by an excessive increase in the number of red blood cells. This is a rare disease that can be caused by genetic mutations or other disorders in the body.

The main cause of polycythemia vera is a violation of the process of blood formation in the active bone marrow, caused by mutations in the genes responsible for regulating the process of erythropoiesis. These mutations result in an overproduction of red blood cells and other blood cells, resulting in increased levels in the blood.

Symptoms of polycythemia vera may vary depending on the severity of the disease. However, the most common symptoms are increased blood viscosity, which can lead to reduced blood flow and an increased risk of thrombosis, headaches, fainting, constant fatigue, redness or pallor of the skin, chest pain, and tinnitus.

Treatment of polycythemia vera is aimed at reducing the number of red blood cells and blood viscosity to prevent complications such as thrombosis and heart attack. Doctors usually prescribe drugs that reduce the number of red blood cells and the thickness of the blood, and control iron levels in the body. In some cases, a regular blood apheresis procedure or blood transfusion may be required to lower the red blood cell count.

What is polycythemia vera

Polycythemia vera is a rare disease characterized by an increase in the number of red blood cells, white blood cells and platelets in the blood. This condition is caused by a violation of the mechanisms of regulation of hematopoiesis, which leads to excessive formation of blood cells in the bone marrow.

The main symptom of polycythemia vera is an increase in the level of erythrocytes in the blood. Usually, blood viscosity suffers and the formation of blood clots threatens, which can lead to serious complications.

Symptoms of polycythemia vera may include redness of the skin, itching, headaches, fatigue, irritability, and vision problems. Patients may also experience increased blood viscosity, which can lead to thrombosis, heart attacks, and other serious complications.

Treatment of polycythemia vera may include physical methods such as venous or arterial blood flow, pharmacological therapy to reduce the number of red blood cells, and the use of anticoagulants to prevent blood clots. In some cases, a phlebectomy may be required to reduce the amount of blood in the circulation.

Causes of polycythemia vera

Polycythemia vera is a rare disorder characterized by elevated levels of red blood cells. This condition can be caused by several reasons, including genetic factors.

Another cause of this disease may be the presence of certain genetic mutations. Some changes in the genome can lead to bone marrow dysfunction and cause excessive production of red blood cells. Such genetic mutations can be inherited from parents or result from random genetic changes.

In addition, the environment can cause polycythemia vera. Some factors, such as high altitude or prolonged lack of oxygen, can lead to bone marrow activation and increased production of red blood cells.

Thus, the causes of polycythemia vera can be associated with both bone marrow dysfunction and genetic factors and the environment.

Risk factors for polycythemia vera

Polycythemia vera is a rare disease that can be caused by several risk factors. The main risk comes from changes in the JAK2 gene, which controls the growth and development of blood cells.

One of the main risk factors is age. People over the age of 60 have a greater risk of developing polycythemia vera than younger people.

Some hereditary syndromes may also increase the risk of developing polycythemia vera. For example, Willis-Ekbom syndrome is a rare genetic disorder that may be associated with this condition.

Smoking is another risk factor. Nicotine and other toxic substances found in tobacco smoke can stimulate the growth of blood cells and increase the risk of developing polycythemia vera.

A family history of the disease can also be a risk factor, as certain genetic mutations can be passed from one generation to the next, increasing the likelihood of developing the disease.

Symptoms of polycythemia vera

Symptoms of polycythemia vera may vary depending on the degree of development of this disease. The main manifested symptom is an increase in the level of red blood cells and hemoglobin in the blood. Patients may complain of frequent reddening of the skin of the face and cervix, as well as a noticeable increase in the color of the blood. Some patients experience seizures, headaches, and tinnitus.

Also, with polycythemia vera, the following symptoms may appear:

• Fatigue and weakness;
• Confusion and memory impairment;
• Palpitations and chest pains;
• Feeling of heaviness in the legs, tingling and numbness;
• Abdominal pain and discomfort after eating;
• Increased sweating and itching of the skin;
• Dizziness and loss of consciousness.

If you have characteristic symptoms, you should consult a doctor to diagnose and determine the cause of their occurrence. True polycythemia is a serious disease that requires proper and timely treatment.

Diagnosis of polycythemia vera

Diagnosis of polycythemia vera is a complex process involving various laboratory tests as well as a clinical examination of the patient. The first step in making a diagnosis is the analysis of the cellular composition of the blood.

Biochemical tests are also done to rule out the presence of other diseases that can cause similar symptoms. An important step in the diagnosis is a bone marrow biopsy to exclude the presence of a tumor or other pathological changes in the brain.

Diagnosis of polycythemia vera requires a comprehensive approach and accurate analysis of the patient’s medical history. Only after a complete study and an accurate diagnosis can treatment of polycythemia vera begin.

Primary treatments for polycythemia vera

Treatment for polycythemia vera is aimed at reducing high blood cell counts and improving circulation. Depending on the degree of development of the disease and the presence of complications, conservative or surgical treatment is performed.

The main treatment for polycythemia vera is phlebotomy, or artificial removal of excess blood. In this procedure, a certain amount of blood is taken from the patient from a vein, which leads to a decrease in the level of blood cells and an improvement in overall health.

Drugs that improve blood resorption may also be used to reduce blood volume. They help in a shorter time to reduce the level of red and white blood cells. In addition, drugs are used that help thin the blood and improve its fluidity.

When complication of polycythemia vera with thrombosis, anticoagulants are used to help prevent blood clots and improve blood supply to organs and tissues. However, the choice of treatment method and dosage of drugs should be carried out by a competent doctor, taking into account the characteristics of the patient’s condition and the presence of concomitant diseases.

In some cases, surgery may be necessary to improve circulation. In such cases, surgery is performed to remove excess circulating capillaries or other abnormalities in the circulatory system.

Non-surgical treatment of polycythemia vera

Polycythemia vera is a serious disease that requires a comprehensive approach to treatment. One of the important aspects of treatment is conservative therapy, which is aimed at controlling symptoms and preventing complications.

The main goal of conservative treatment of polycythemia vera is to reduce the level of red blood cells in the blood and improve blood flow. Various methods are used for this:

1. Pharmacotherapy: Your doctor may prescribe drugs to lower your red blood cells, such as hydroxyurea or the most common methotrexate. They help reduce the number of red blood cells in the blood and prevent blood clots.
2. Aspirin: Aspirin may help improve blood flow, prevent blood clots, and reduce the risk of cardiovascular complications.
3. Hydration: Drinking plenty of water thins the blood and improves blood flow. Patients are advised to drink enough water throughout the day.
4. Ringing: is a procedure in which excess blood is removed from the body. Puffing may be prescribed by a physician for patients with high red blood cell counts and low blood flow to provide natural blood flow.

All of these methods help to control red blood cells, improve blood flow and reduce the risk of cardiovascular complications in patients with polycythemia vera. However, each patient is individual, and the choice of treatment methods should be made by the doctor based on the clinical picture and the characteristics of each individual case.

Use of drugs for polycythemia vera

Treatment of polycythemia vera involves the use of drugs to help reduce the number of blood cells and prevent complications.

Drugs used to treat polycythemia vera include aspirin, which has an antiplatelet effect and helps prevent blood clots. Another drug used is hydroxycarbamide, which stimulates the production of endogenous erythropoietin and reduces the level of red blood cells in the blood.

Polycythemia vera can also be treated with interferon alfa, which regulates the production of blood cells and helps to reduce their number. This drug can be used as monotherapy or in combination with other drugs.

In some cases, at high risk of thrombosis, the use of anticoagulants such as warfarin or acetylsalicylic acid may be required. These drugs help thin the blood and prevent blood clots.

It is important to note that the choice and dosage of drugs should be carried out only by a hematologist, based on the individual characteristics of the patient and the severity of the disease. Self-medication can be dangerous and lead to serious complications.

Influence of diet and lifestyle on polycythemia vera

Polycythemia vera is a rare disease in which the body has an increase in the number of red blood cells and hemoglobin. This disease can be caused by a variety of causes, including genetic factors, autoimmune disorders, or certain mutations. However, diet and lifestyle can also influence the development of polycythemia vera.

One of the factors that can contribute to polycythemia vera is an unhealthy diet. Eating a large amount of fatty and fried foods rich in cholesterol can lead to metabolic disorders and an increase in hemoglobin levels in the blood. Constant consumption of fatty foods can also lead to high levels of calcium in the blood, which stimulates the production of red blood cells.

In addition, lack of physical activity may contribute to the development of polycythemia vera. Lack of regular training and insufficient physical activity do not allow you to efficiently use energy, which can lead to metabolic disorders and an increase in hemoglobin levels.

For the prevention and treatment of polycythemia vera, a balanced diet containing sufficient amounts of vegetables, fruits and cereals is recommended. It is also important to limit fat intake and increase physical activity. Patients with polycythemia vera are often advised to engage in moderate exercise, such as walking or swimming, to improve circulation and lower hemoglobin levels.

Physical exercise for polycythemia vera

Exercise may be helpful in polycythemia vera because it can help improve circulation and reduce the risk of complications. However, before starting any physical activity, it is necessary to consult a doctor and obtain his permission.

The basic principle of exercise in polycythemia vera is moderation. It is necessary to choose exercises that do not lead to excessive stress on the heart and lungs. Aerobic exercise such as walking, swimming or cycling is recommended. They improve blood circulation and increase stamina.

Regular exercise can improve overall health, lower blood pressure and improve heart function. They also help reduce hematocrit and blood viscosity.

It is important to remember that exercise does not replace primary treatment for polycythemia vera. They complement it and help improve the patient’s quality of life. Therefore, it is necessary to follow the recommendations of the doctor and regularly undergo examinations to monitor the state of health.

Complications of polycythemia vera

Polycythemia vera can lead to various complications and an increased risk of serious illness.

One possible complication is the formation of blood clots. In patients with polycythemia vera, the blood becomes thicker and more viscous, which can contribute to the formation of blood clots in the blood vessels. This can lead to the development of thrombosis, which in turn can cause serious consequences, such as a stroke or heart attack.

Other possible complications are an increased risk of cardiovascular disease such as anemia and hypertension. Polycythemia vera is accompanied by an increase in the number of red blood cells, which can cause changes in the work of the heart and increase the load on the vessels.

In addition, polycythemia vera can lead to Polycythemia vera disease, which is characterized by an overproduction of blood cells in the bone marrow. This disease can cause a variety of complications, including splenomegaly (an enlarged spleen), symptoms of anemia, and platelet problems.

Polycythemia vera requires careful monitoring and treatment to prevent possible complications and reduce the risk of serious disease. It is important to consult a doctor for diagnosis and optimal treatment in order to control the condition and prevent possible complications.

Prognosis for polycythemia vera

The prognosis for polycythemia vera depends on many factors, including the age of the patient, the degree of circulatory disturbance, and the presence of comorbidities. In most cases, polycythemia vera is a chronic disease and requires long-term treatment and medical supervision.

In case of timely diagnosis of polycythemia vera and adequate treatment, the prognosis may be favorable. However, if left untreated, the disease can progress and lead to serious complications such as thrombosis, myocardial infarction or stroke.

Treatment of polycythemia vera is aimed at eliminating the cause of the disease and preventing complications. In most cases, drug therapy is used, which includes taking drugs that reduce the number of blood cells or contribute to their destruction.

An important role in the prognosis is played by compliance with the doctor’s recommendations for changing lifestyle and diet. Patients are advised to avoid overheating, physical overexertion and productive industrial factors. It is also important to monitor the state of blood pressure and hemoglobin levels, regularly undergo laboratory tests and consult a doctor.

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