What are the symptoms of high red blood cells. How is polycythemia vera diagnosed. What causes this rare blood cancer. What are the potential complications of untreated polycythemia vera. How can proper medical care help manage this condition.

What is Polycythemia Vera and How Does it Affect the Body?

Polycythemia vera (PV) is a rare form of blood cancer that originates in the bone marrow. This condition causes an overproduction of red blood cells, leading to a thickening of the blood. The increased blood viscosity can result in reduced blood flow throughout the body, potentially causing severe complications such as blood clots.

PV typically develops gradually, and many individuals may have the condition for years before receiving a diagnosis. Often, the disorder is discovered incidentally during routine blood tests performed for unrelated reasons. While PV can be life-threatening if left untreated, proper medical management can significantly improve outcomes and quality of life for patients.

How Common is Polycythemia Vera?

Polycythemia vera is considered a rare disease. It affects approximately 1 in 100,000 people in the United States annually. The condition is more prevalent in older adults, with most diagnoses occurring between the ages of 50 and 75. Interestingly, while men are more likely to develop PV overall, women tend to be diagnosed at younger ages.

Recognizing the Symptoms of Polycythemia Vera

Identifying the symptoms of polycythemia vera can be challenging, as many individuals with the condition may not experience noticeable signs. However, some people may develop vague symptoms that could indicate an underlying issue. These non-specific symptoms include:

• Headaches
• Dizziness
• Fatigue
• Blurred vision

In addition to these general symptoms, there are more specific indicators that may point to polycythemia vera:

1. Itchiness, particularly after exposure to warm water (such as during a bath or shower)
2. Numbness, tingling, burning sensations, or weakness in the extremities
3. A feeling of fullness shortly after eating, often accompanied by bloating or pain in the left upper abdomen due to an enlarged spleen
4. Unusual bleeding, including nosebleeds or bleeding gums
5. Painful swelling of a single joint, frequently affecting the big toe
6. Shortness of breath and difficulty breathing when lying down

When Should You Seek Medical Attention?

If you experience any of the aforementioned symptoms, it’s crucial to schedule an appointment with your healthcare provider. Early detection and treatment of polycythemia vera can significantly improve outcomes and prevent potential complications.

Understanding the Causes of Polycythemia Vera

Polycythemia vera occurs due to a genetic mutation that affects blood cell production. Under normal circumstances, the body carefully regulates the production of three types of blood cells: red blood cells, white blood cells, and platelets. In individuals with PV, a mutation disrupts this delicate balance, leading to an overproduction of blood cells, particularly red blood cells.

Is Polycythemia Vera Hereditary?

The specific genetic mutation responsible for polycythemia vera is not typically inherited from parents. The cause of this mutation remains unknown, and researchers continue to investigate potential environmental or lifestyle factors that may contribute to its development.

Risk Factors Associated with Polycythemia Vera

While the exact cause of polycythemia vera remains elusive, certain factors may increase an individual’s risk of developing the condition:

• Age: PV is more common in adults over 50, with peak incidence occurring between 50 and 75 years of age.
• Gender: Men are slightly more likely to develop PV than women.
• Ethnicity: Some studies suggest that PV may be more prevalent in certain ethnic groups, though more research is needed to confirm these findings.

Potential Complications of Untreated Polycythemia Vera

If left untreated, polycythemia vera can lead to several serious complications that can significantly impact a person’s health and quality of life. Some of the most concerning potential complications include:

Blood Clots

The increased blood thickness and reduced blood flow associated with PV, combined with abnormalities in platelets, significantly raise the risk of blood clots. These clots can have severe consequences, including:

• Stroke
• Heart attack
• Pulmonary embolism (blockage in an artery in the lungs)
• Deep vein thrombosis (clot in a vein deep within a leg muscle or in the abdomen)

Enlarged Spleen

The spleen plays a crucial role in fighting infections and filtering unwanted material from the bloodstream, including old or damaged blood cells. The increased number of blood cells produced in polycythemia vera forces the spleen to work harder than usual, leading to its enlargement (splenomegaly).

Complications from High Red Blood Cell Levels

Excessive red blood cell production can result in various health issues, including:

• Peptic ulcers: Open sores on the inside lining of the stomach, upper small intestine, or esophagus
• Gout: Inflammation in the joints caused by the accumulation of uric acid crystals

Progression to Other Blood Disorders

In rare cases, polycythemia vera may progress to other blood disorders, such as:

• Myelofibrosis: A progressive disorder where bone marrow is replaced with scar tissue
• Myelodysplastic syndrome: A condition in which stem cells don’t mature or function properly
• Acute leukemia: Cancer of the blood and bone marrow

Diagnosing Polycythemia Vera: What to Expect

Diagnosing polycythemia vera typically involves a combination of medical history review, physical examination, and laboratory tests. The diagnostic process may include:

1. Complete blood count (CBC): This test measures the levels of red blood cells, white blood cells, and platelets in your blood.
2. Genetic testing: Specifically looking for the JAK2 gene mutation, which is present in most cases of PV.
3. Bone marrow biopsy: This procedure involves removing a small sample of bone marrow for microscopic examination.
4. Erythropoietin level test: Measures the amount of erythropoietin, a hormone that stimulates red blood cell production, in your blood.

What is the JAK2 Gene Mutation?

The JAK2 gene mutation is present in approximately 95% of individuals with polycythemia vera. This mutation affects the JAK2 protein, which plays a crucial role in regulating blood cell production. The presence of this mutation can help confirm a diagnosis of PV and guide treatment decisions.

Treatment Options for Polycythemia Vera

While there is no cure for polycythemia vera, various treatment options can help manage symptoms and reduce the risk of complications. The primary goals of treatment are to reduce the number of excess blood cells and prevent blood clots. Common treatment approaches include:

Phlebotomy

Phlebotomy, also known as bloodletting, involves removing a certain amount of blood from your body to reduce the number of red blood cells. This procedure is typically performed regularly until your red blood cell count reaches a target level.

Medications

Several medications may be prescribed to manage polycythemia vera:

• Hydroxyurea: This drug helps suppress bone marrow production of blood cells.
• Interferon alfa: This medication can help reduce blood cell production and may be used in younger patients or during pregnancy.
• Ruxolitinib: A JAK inhibitor that can help reduce spleen size and manage symptoms in some patients.
• Aspirin: Low-dose aspirin may be recommended to reduce the risk of blood clots.

Lifestyle Modifications

In addition to medical treatments, certain lifestyle changes can help manage polycythemia vera:

• Staying hydrated to maintain proper blood flow
• Avoiding extreme temperatures, which can affect blood flow
• Quitting smoking to reduce cardiovascular risks
• Maintaining a healthy weight and engaging in regular, moderate exercise

Living with Polycythemia Vera: Long-term Outlook and Management

While polycythemia vera is a chronic condition, many individuals with PV can lead full and active lives with proper management. Regular medical check-ups and adherence to treatment plans are essential for maintaining quality of life and preventing complications.

What is the Life Expectancy for Individuals with Polycythemia Vera?

With appropriate treatment and management, many people with polycythemia vera can have a near-normal life expectancy. However, individual outcomes can vary depending on factors such as age at diagnosis, overall health, and response to treatment. It’s crucial to work closely with your healthcare team to develop an personalized management plan.

Importance of Ongoing Monitoring

Regular monitoring is essential for individuals with polycythemia vera. This may include:

• Routine blood tests to check blood cell counts and monitor treatment effectiveness
• Periodic imaging studies to assess spleen size
• Regular check-ups to evaluate symptoms and adjust treatment as needed

By staying vigilant and working closely with healthcare providers, individuals with polycythemia vera can effectively manage their condition and minimize the risk of complications, allowing them to maintain a good quality of life despite living with a chronic blood disorder.

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 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.

Products & Services

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).

Erythrocytes in the blood are increased: causes, symptoms, treatment

Each of us at school heard about erythrocytes, red blood cells, which play one of the main roles in the human body. They carry oxygen from the lungs to tissues throughout the body. Sometimes there are too many of them, which indicates the existence of some health problems.

Red blood cells do more than transport oxygen. They also exchange lipids with blood plasma, transfer amino acid residues, and also participate in immune processes, in the formation of thromboplastin, in the regulation of acid-base balance in the body and ionic balance of plasma, water-salt metabolism.

Blood red bodies are anucleated cells containing hemoglobin (up to 96%), protein and lipids (4-5%). Every second, approximately 2.3 million new red blood cells are formed in our body. Their life expectancy is up to 4 months.

According to the Leukemia & Lymphoma Society of America, 4.7 million to 6.1 million red blood cells per microliter of blood (mcL) are considered normal for men and 4.2 million to 5.4 million for women erythrocytes per mcL, and in children – from 4.0 million to 5.5 million erythrocytes per mcL. An increased red blood cell count can be due to low oxygen levels, kidney disease, or other health problems.

Red cell production (erythropoiesis) occurs in the bone marrow. The hormone erythropoietin, which is mainly produced in the kidneys, is responsible for this process (approximately 10% of this hormone is produced by the liver). Erythropoietin secretion is regulated in response to low blood oxygen levels.

CAUSES OF ERYTHROCYTOSIS

Doctors call a high level of red blood cells erythrocytosis. In this case, the blood becomes thick and viscous, it hardly penetrates into the capillaries. The human body can increase the production of red blood cells when there is a lack of oxygen. And the lack of oxygen is due to congenital heart disease, heart failure, hemoglobinopathy (a hereditary disease associated with a violation of the hemoglobin protein structure), chronic obstructive pulmonary disease (COPD), sleep apnea, and even due to smoking.

Some medications can stimulate the production of red blood cells. Among them are, for example, anabolic steroids, the protein erythropoietin, as well as antibiotics (in particular, gentamicin, used to treat bacterial infections of the blood).

Often the number of red blood cells in a person’s blood increases due to dehydration (natural causes or due to high fever, vomiting or diarrhea). This is due to the fact that they become more concentrated. But the actual number of red blood cells in this case remains unchanged.

KIDNEY DISEASE

Sometimes the kidneys can produce too many red blood cells. This occurs with certain cancers or after a kidney transplant.

BONE MARROW DISEASES

There are cases when an increased number of red blood cells in the blood is the result of diseases of the bone marrow. These diseases include polycythemia vera (polycythemia vera), a chronic hematopoietic disease characterized by a persistent increase in the number of red blood cells, and other myeloproliferative diseases (where too many red blood cells, white blood cells, or platelets are produced in the bone marrow).

PHYSIOLOGICAL FACTORS

An increase in red blood cells in human blood is sometimes due to physiological factors. These include: severe mental and physical overload, stress, exposure to toxic substances. An increased content of red blood cells in the blood is often observed in people living in mountainous areas (there is little oxygen), which is considered normal for them. Medical intervention in this case is not required. These indicators return to normal if a person moves to live, for example, in a flat area.

SYMPTOMS OF INCREASED RBC

Only a blood test detects an increased number of red blood cells. Outwardly, this may not say anything. Although, in some cases, the symptoms still appear. The fact that a person has too many red blood cells may indicate fatigue, shortness of breath, joint pain, wet palms or feet, itchy skin (especially after a shower or bath), sleep disturbance.

Polycythemia, characterized by high red blood cell counts, causes blurred vision, headache, chest and muscle pain, dizziness, high blood pressure, and ringing in the ears. In mild cases of polycythemia, there are often no symptoms at all.

WHAT TO DO WITH INCREASED RBC NUMBERS?

First of all, the doctor must find out the reason for the increase in red blood cells. We can take preventive measures. In order for the body to have a healthy level of red blood cells, you need to drink plenty of purified water. The fact is that chlorine in tap water quickly increases the number of these cells.

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In addition, doctors recommend eating fresh vegetables and fruits to maintain healthy red blood cells. They are rich in vitamins and minerals that help form red blood cells.

To reduce red blood cells, reduce your intake of iron-rich foods (red meat, liver, beans, lentils, spinach, cabbage, prunes, raisins), stop caffeinated drinks, and stop smoking and not taking aspirin.

It is very useful to maintain a normal number of red blood cells to engage in regular physical exercise. Due to this, the body will need more oxygen.

Erythrocytes

Erythrocytes (red blood cells) are the most numerous blood cells containing hemoglobin. Their main function is to deliver oxygen to tissues and organs.

Determining the number of red blood cells is an integral part of the general blood test and is not performed separately.

Synonyms Russian

Red blood cell count, red blood cell count, red blood cell count.

Synonyms English

Red blood cell count, RBC count, RCC, red cell count, erythrocyte count, red count.

Units

*10 ¹² /l (10 in st. 12 per litre).

What biomaterial can be used for research?

Venous, capillary blood.

General information about the test

This test counts the number of red blood cells in a certain volume of blood, either in a liter or in a microliter.

Red blood cells, which are formed in the bone marrow, deliver oxygen to organs and tissues, and also help transport carbon dioxide from organs and tissues to the lungs, where it is exhaled. This is due to the fact that they contain the protein hemoglobin, which easily binds with oxygen and carbon dioxide.

A change in the number of erythrocytes is usually associated with changes in the level of hemoglobin. When the number of red blood cells and the level of hemoglobin are reduced, the patient has anemia, when it is increased, polycythemia.

The normal lifespan of an erythrocyte is about 120 days. The body tries to maintain approximately the same number of circulating red blood cells. In this case, old red blood cells are destroyed in the spleen, and new ones are formed in the bone marrow.

If the balance between the formation and destruction of red blood cells is disturbed due to the loss of red blood cells, their destruction or reduction in their production, then anemia develops. The most common causes of red blood cell loss are acute or chronic bleeding or hemolysis (destruction in the bloodstream). The body compensates for these losses by increasing the production of red blood cells in the bone marrow. This process is regulated by the hormone erythropoietin, which is produced in the kidneys.

The production of red blood cells can decrease when the normal functioning of the bone marrow is disrupted. The cause of such a violation may be infiltration of the brain with tumor cells or inhibition of its function under the influence of radiation, chemotherapy, due to a lack of erythropoietin (a substance formed in the kidneys that stimulates the formation of red blood cells) or due to a lack of substances necessary for the formation of hemoglobin (iron, vitamin B ₁₂ , folic acid).

Reduced production of red blood cells leads to a decrease in their circulation in the bloodstream, a lack of hemoglobin and its ability to carry oxygen, and consequently to weakness and fatigue.

In turn, the number of erythrocytes increases with more active work of the bone marrow. This can be caused by a variety of causes, such as excessive levels of erythropoietin, a chronic disorder that increases the number of red blood cells (polycythemia vera), or smoking.

What is research used for?

• The RBC test, along with hemoglobin and hematocrit, is used to detect any type of anemia or polycythemia.
• These indicators are usually included in the so-called clinical (general) blood test. In addition, it includes the determination of various characteristics of erythrocytes (shape, size, volume), which, as a rule, allow us to clarify the variant of anemia.

When is the test scheduled?

Usually, the study is included in the routine complete blood count, which is done both planned and for various diseases and pathological conditions, before surgical interventions.

It is usually repeated in patients suffering from bleeding or chronic anemia.

What do the results mean?

Reference values ​​

A decrease in red blood cells usually indicates chronic or acute bleeding, leading to anemia. In addition, its cause may be the destruction of red blood cells inside the body or a lack of iron or vitamin B ₁₂ , which are necessary for the formation of hemoglobin.

Reasons for high red blood cells:

• dehydration (dehydration) due to blood clotting – hemoconcentration;
• polycythemia vera due to excessive production of red blood cells in the bone marrow;
• chronic obstructive pulmonary disease;
• chronic heart failure;
• thalassemia – a genetic disease that leads to impaired hemoglobin synthesis; at the same time, the level of hemoglobin will be reduced, and the number of red blood cells will be increased;
• hypoxia (oxygen starvation) of tissues of any origin, for example due to smoking.

Causes of a decrease in the number of red blood cells:

• iron-, B ₁₂ – or folic deficiency anemia;
• acute or chronic bleeding;
• chronic kidney disease – in this case, there is a decrease in the synthesis of the hormone erythropoietin, which stimulates the formation of red blood cells in the bone marrow;
• cirrhosis of the liver;
• myxedema – decreased thyroid function;
• oncological diseases of the bone marrow or metastases of other tumors in the bone marrow;
• aplastic anemia;
• systemic connective tissue diseases;
• chronic infections.

What can influence the result?

Factors that increase the number of erythrocytes:

• individuals who ascend to high altitudes experience an increase in the number of erythrocytes, as their body adapts to a reduced oxygen concentration;
• RBC levels may be elevated in smokers due to tissue oxygen deprivation;
• Prolonged application of a tourniquet during blood sampling can lead to falsely high results.