Polycythemia vera is a long-term blood cancer that makes the bone marrow produce too many red blood cells. It develops slowly and is usually diagnosed after the age of 60, leading to potential complications if not treated at the earliest. 

If you’re preparing for MBBS or NEET PG, learning in detail about this condition can boost your overall knowledge. Platforms like DocTutorials provide excellent study materials and resources to help aspirants gain an in-depth understanding of conditions like polycythemia vera.

Keep reading to explore polycythemia symptoms, causes, treatment, and management.

What is Polycythemia Vera?

Polycythemia vera (PV) is a blood disorder that causes the body to make too many red blood cells. It is also known as polycythemia rubra vera, primary polycythemia, Osler-Vaquez, or erythema disease. This thickens the blood, slowing circulation and raising the risk of blood clots, heart attacks, and strokes. 

The risk is even higher if both red blood cells and platelets are elevated. It can also lead to annoying polycythemia symptoms such as itchy skin, stomach pain, ringing in the ears, nosebleeds, and blurry or double vision. 

Although PV has no cure as of now, proper medical care can help manage symptoms and even reduce complications.

What are the Types and Causes of Polycythemia?

Polycythemia is generally classified into two types, each with different polycythemia causes:

1. Primary Polycythemia (Polycythemia Vera – PV)

Primary polycythemia vera is a rare and slow-growing blood cancer categorised as a myeloproliferative neoplasm.

It generally occurs when the bone marrow produces too many abnormal blood cell precursors, leading to an excess of red blood cells. In some cases, individuals with PV may also have higher levels of white blood cells or platelets.

2. Secondary Polycythemia

Secondary polycythemia usually occurs when an increase in red blood cells is not linked to PV or any other myeloproliferative disease. Unlike PV, this condition only affects red blood cell production. Common causes of secondary polycythemia causes include:

• Living at a high altitude
• Obstructive sleep apnea
• Certain types of tumours
• Heart or lung diseases that lower oxygen levels in the body

What are the Risk Factors of Polycythemia Vera?

The following are the risk factors associated with polycythemia vera:

• Some people, especially men over 60, are at a higher risk of developing primary polycythemia (PV). 
• It is usually not inherited, but it is linked to genetic mutations such as JAK2 and TET2.
• While these mutations are mostly not passed down, rare cases can be inherited. 

Those with a family history of PV may consider seeing a doctor for evaluation. 

What are the Symptoms of Polycythemia Vera (PV)?

Many people with polycythemia rubra vera may not realise they have the condition, as symptoms develop gradually over time. In many cases, a doctor may detect PV during a routine blood test or while investigating another health issue.

As the condition progresses, polycythemia vera symptoms may become more noticeable. Some of the common symptoms include:

• Dizziness or vertigo
• Headaches
• Excessive sweating
• Itchy skin
• Ringing in the ears
• Blurred vision
• Fatigue
• Purplish or reddish skin on the palms, nose, and earlobes
• Bleeding or bruising easily
• Burning sensation in the feet
• Abdominal fullness
• Frequent nosebleeds
• Bleeding gums

What are the Complications of Polycythemia Vera (PV)

Without timely and proper treatment, polycythemia rubra vera can also lead to serious health issues, including:

• Enlarged spleen
• Blood clots
• Chest pain (angina)
• Stroke
• Peptic ulcers
• Heart disease
• Gout
• Other blood disorders, like leukaemia or myelofibrosis 

How Do Doctors Diagnose Polycythemia?

If polycythemia is suspected, doctors will carry out several tests to determine the cause:

• Blood Tests

A complete blood count (CBC) is usually the first step in diagnosis. This test checks for an increased number of red blood cells or high haemoglobin levels. It also measures platelet and white blood cell levels to identify any abnormalities. If PV is suspected, further specialised blood tests may be required.

• Bone Marrow Biopsy

In some cases, a doctor may recommend a bone marrow biopsy. This procedure generally involves using a needle to extract a small sample of bone marrow, which is then examined under a microscope to detect any abnormalities.

• Genetic Tests

Although genetic causes of polycythemia are uncommon, doctors may test bone marrow samples for genetic mutations linked to the condition. They may also check blood cells for the JAK2 mutation, which is strongly associated with PV.

What are the Treatment Options for Polycythemia Vera?

In the early stages, PV is managed conservatively with polycythemia vera treatment aimed at controlling blood thickness and reducing complications. Including:

• Phlebotomy

It is the most common treatment for PV, which involves regular blood withdrawals, similar to donating blood. A healthcare professional inserts a needle into a vein to remove a small amount of blood, usually around a pint, but this may vary. This process lowers blood volume and reduces excess red blood cells.

• Low-Dose Aspirin

A low daily dose of aspirin is often prescribed to prevent blood platelets from clumping together while reducing the risk of blood clots. It can also help ease inflammation in the hands and feet. 

However, aspirin can irritate the stomach and even increase bleeding risk, so it may not be suitable for those with stomach ulcers.

Additional Treatments for Severe Cases

Some additional polycythemia vera treatments may be recommended for individuals with severe symptoms or a history of blood clots. They include:

Treatments to Reduce Itching

Itching is a common symptom in advanced PV, and doctors may prescribe:

• Antihistamines, an over-the-counter (OTC) allergy medication.
• Phototherapy, which generally uses ultraviolet A (UVA) light combined with a medication called psoralen to make the skin more receptive to treatment.
• Selective Serotonin Reuptake Inhibitors (SSRIs) are usually used for depression but can help relieve persistent itching when given in low doses.

Medications to Reduce Red Blood Cell Count

Certain drugs may be used alone or in combination, including:

• Hydroxyurea
• Interferon alfa
• Ruxolitinib
• Busulfan

Clinical Trials

Some individuals may have the opportunity to participate in clinical trials, where they can access new treatments while contributing to medical research. Ongoing studies are investigating drugs such as:

• Peginterferon alfa-2a
• Givinostat
• Idasanutlin

Bone Marrow Transplant

Doctors may consider a bone marrow transplant in certain cases. The decision depends on factors such as disease severity and the individual’s ability to recover from the procedure.

Supportive Care

If polycythemia progresses despite treatment, doctors mainly focus on symptom relief. Advanced PV often leads to anaemia and an enlarged spleen. Supportive treatments may include:

• Pain relief
• Blood transfusions
• Low-dose radiation therapy for the spleen

What are the Tips for Living With Polycythemia Vera?

There is no cure for polycythemia vera as of now. However, proper treatment can help reduce complications and slow disease progression. It is always essential to work closely with a healthcare provider to develop a personalised treatment plan. Staying physically active can also help by increasing heart rate and improving blood circulation.

Other ways to support healthy blood flow include:

• Stretching the legs and ankles regularly
• Avoiding extreme heat
• Drinking plenty of water

Since PV can affect circulation, extra care should be taken to protect the feet and hands. It is also essential to consider the following:

• Wear shoes at all times, even indoors
• Use warm gloves and socks in cold weather
• Avoid injuries from extreme temperatures 

 FAQs About Polycythemia Vera

1. Who is affected by polycythemia vera?

Polycythemia vera is a rare condition, affecting around 50 in every 100,000 people. It is most commonly diagnosed in individuals over the age of 60. 

2. What is polycythemia life expectancy?

Studies suggest that people diagnosed with polycythemia vera have an average life expectancy of around 20 years. The typical age of death is about 77, and the most common cause of death is complications from blood clots (around 33%), followed by cancer progression (15%). 

3. Is polycythemia serious?

Polycythemia vera symptoms can be managed with treatment, but it may lead to serious complications. Excessive bleeding or blood clots in the arteries or veins can become life-threatening if not treated promptly. In about 5% of cases, the condition may develop into hard-to-treat leukaemia. 

4. How does polycythemia vera affect the body?

Polycythemia vera causes the body to produce too many red blood cells, increasing the risk of bleeding, clotting, and bruising: 

• Thickened blood slows circulation, reducing oxygen supply to tissues and organs.
• The spleen, which filters blood, works harder and may become swollen and painful. 
• Over time, this condition can cause numerous symptoms and even lead to other health complications.

5. Is it true that polycythemia vera is not cancer?

Polycythemia is a type of blood cancer called a Myeloproliferative Neoplasm (MPN): 

• It develops due to a gene mutation that occurs for unknown reasons, usually later in life. 
• This condition progresses slowly and is often diagnosed after the age of 60. 
• While not usually fatal on its own, the main risks come from blood clot complications or, in rare cases, progression to more aggressive blood cancers. 

Conclusion

Polycythemia is a type of cancer, but most people live well for many years after diagnosis. It is generally classified as cancer as it causes uncontrolled cell production, though it progresses slowly.

However, the biggest risk comes from blood clots, not the cancer itself. Regular medical check-ups and a healthy lifestyle are important for managing the condition and maintaining overall heart health.

DocTutorials covers several other rare disorders, like polycythemia vera, in great detail, facilitating MBBS and NEET PG preparation. Students can also access expert video lectures, test series, question banks, and guidance, increasing their chances of acing the examination. Enroll in our NEET PG courses today!