7 Key Polycythemia Vera Symptoms You Should Know About

Polycythemia vera (PV) is a rare, chronic blood disorder characterized by the overproduction of red blood cells in the bone marrow. This condition causes the blood to become thicker than normal, which can lead to serious complications if left unmanaged. Understanding the symptoms of polycythemia vera is crucial for early detection and proper medical care.

Many people with PV may not experience symptoms initially, and the condition is often discovered during routine blood tests. However, as the disease progresses, various signs and symptoms may emerge. This article will explore the most common symptoms associated with polycythemia vera, helping you recognize when to seek medical attention.

1. Itching, Especially After Warm Baths or Showers

One of the most distinctive and bothersome symptoms of polycythemia vera is intense itching, medically known as pruritus. This itching is particularly notable because it often occurs or worsens after bathing in warm or hot water, a phenomenon called aquagenic pruritus.

The itching associated with PV can be:

• Severe and persistent, lasting from several minutes to hours
• Felt all over the body or localized to specific areas
• Described as a burning, prickling, or tingling sensation
• Significantly impact quality of life and daily activities

The exact mechanism behind this symptom isn’t fully understood, but it’s believed to be related to the release of histamine and other chemical mediators from increased numbers of mast cells in the blood. This symptom affects approximately 40-70% of people with polycythemia vera and can be one of the earliest signs of the condition.

2. Headaches and Dizziness

Headaches and feelings of dizziness or lightheadedness are common neurological symptoms experienced by individuals with polycythemia vera. These symptoms occur because the increased thickness of the blood reduces its ability to flow smoothly through blood vessels, particularly the small vessels in the brain.

These symptoms may manifest as:

• Frequent or persistent headaches that may vary in intensity
• A feeling of fullness or pressure in the head
• Vertigo or a spinning sensation
• Difficulty concentrating or mental fog
• Momentary vision disturbances or blurred vision

The reduced blood flow to the brain can also affect cognitive function, leading to problems with memory, concentration, and overall mental clarity. These symptoms often worsen when the red blood cell count is particularly elevated and may improve with appropriate medical management.

3. Fatigue and Weakness

Despite having an excess of red blood cells, which normally carry oxygen throughout the body, many people with polycythemia vera experience significant fatigue and weakness. This seemingly paradoxical symptom is one of the most commonly reported complaints among PV patients.

The fatigue associated with polycythemia vera is characterized by:

• Persistent tiredness that doesn’t improve with rest
• Lack of energy to perform daily activities
• Feeling of physical and mental exhaustion
• Decreased exercise tolerance
• Need for frequent rest periods throughout the day

This fatigue occurs because the thickened blood flows more slowly through the body, meaning that despite the abundance of red blood cells, oxygen delivery to tissues may actually be impaired. Additionally, the body expends extra energy trying to pump the thicker blood through the circulatory system, contributing to feelings of exhaustion.

4. Redness or Flushing of the Skin

A noticeable change in skin appearance is a hallmark visual symptom of polycythemia vera. People with this condition often develop a distinctive reddish or ruddy complexion, particularly noticeable on the face, hands, and feet.

Skin changes in PV include:

• Reddish or plethoric (flushed) appearance of the face
• Red or purple discoloration of the palms and soles
• Unusually red appearance of the mucous membranes, including the inside of the mouth and eyes
• Darkened or reddish hue to the skin overall

This redness is a direct result of the increased number of red blood cells circulating through the small blood vessels near the skin’s surface. The excess red blood cells make the blood appear darker and more concentrated, which shows through the skin as a ruddy or flushed appearance. Some people may also experience episodes of sudden facial flushing similar to hot flashes.

5. Enlarged Spleen (Splenomegaly)

The spleen, an organ located in the upper left part of the abdomen, often becomes enlarged in people with polycythemia vera. This condition, called splenomegaly, occurs in approximately 70% of PV patients and is one of the key physical findings during medical examination.

An enlarged spleen may cause:

• A feeling of fullness or discomfort in the upper left abdomen
• Pain in the left upper quadrant, especially after eating
• Early satiety (feeling full quickly when eating)
• Abdominal bloating or distension
• Pain that may radiate to the left shoulder

The spleen enlarges because it works overtime to filter the excess blood cells and may also begin producing additional blood cells, a process called extramedullary hematopoiesis. In some cases, the enlarged spleen can be felt during a physical examination, extending below the rib cage. Significant splenomegaly can impact daily comfort and eating habits.

6. Unusual Bleeding or Bruising

Paradoxically, while polycythemia vera involves increased blood cell production, it can also affect blood clotting mechanisms, leading to both bleeding problems and clotting complications. Some individuals with PV experience easy bruising or unusual bleeding.

Bleeding manifestations may include:

• Frequent nosebleeds (epistaxis)
• Bleeding gums, especially when brushing teeth
• Easy bruising from minor bumps or injuries
• Prolonged bleeding from small cuts
• Small red or purple spots on the skin (petechiae)
• Gastrointestinal bleeding in some cases

These bleeding tendencies occur because the increased blood viscosity and abnormal platelet function can interfere with normal blood clotting. Additionally, the high number of blood cells can affect how platelets work together to form clots. Anyone experiencing unusual bleeding should seek medical attention promptly.

7. Vision Problems and Visual Disturbances

Various vision-related symptoms can occur in people with polycythemia vera due to changes in blood flow to the eyes and the effect of thickened blood on the small blood vessels in the retina.

Visual symptoms associated with PV include:

• Blurred or distorted vision
• Blind spots or scotomas in the visual field
• Flashing lights or floaters
• Temporary vision loss in one or both eyes
• Double vision in rare cases
• Visual disturbances that come and go

These symptoms result from impaired blood flow through the small vessels supplying the retina and optic nerve. In some cases, examination of the eyes may reveal engorged, dilated blood vessels in the retina. Vision problems in PV should never be ignored, as they may indicate reduced blood flow that could lead to more serious complications if not addressed. Regular eye examinations are important for people diagnosed with polycythemia vera.

Main Causes of Polycythemia Vera

Polycythemia vera is caused by a genetic mutation that affects blood cell production. Understanding these causes can help explain why the condition develops.

JAK2 Gene Mutation: The primary cause of polycythemia vera is a mutation in the JAK2 (Janus kinase 2) gene, which is found in approximately 95% of PV cases. This mutation, most commonly JAK2 V617F, causes bone marrow cells to produce too many red blood cells, and sometimes too many white blood cells and platelets as well. This mutation is acquired during a person’s lifetime and is not inherited from parents.

Other Genetic Mutations: In the remaining 5% of cases, mutations in other genes such as CALR or MPL may be responsible. Some individuals may have PV without any identifiable mutation with current testing methods.

Risk Factors: While the exact trigger for these mutations is unknown, certain factors are associated with polycythemia vera:

• Age: PV most commonly affects people over 60, though it can occur at any age
• Gender: Men are slightly more likely to develop PV than women
• Exposure to certain chemicals or radiation, though this link is not definitively established
• Family history: While PV itself is not directly inherited, there may be a slightly increased risk in families

It’s important to note that polycythemia vera is not caused by lifestyle factors, diet, or behavior, and it cannot be prevented through lifestyle modifications.

Frequently Asked Questions About Polycythemia Vera

What is polycythemia vera?

Polycythemia vera is a rare, chronic blood cancer classified as a myeloproliferative neoplasm. It causes the bone marrow to produce too many red blood cells, making the blood thicker than normal. This can lead to various complications including blood clots, bleeding problems, and organ enlargement.

How is polycythemia vera diagnosed?

PV is typically diagnosed through blood tests showing elevated red blood cell count, hemoglobin, and hematocrit levels. Additional tests include genetic testing for JAK2 or other mutations, bone marrow biopsy, and measurement of erythropoietin levels. A complete medical evaluation by a hematologist is necessary for accurate diagnosis.

Is polycythemia vera hereditary?

Polycythemia vera is generally not directly inherited from parents. The genetic mutations that cause PV are acquired during a person’s lifetime rather than being passed down through families. However, there may be a slightly increased risk in families where someone has PV, suggesting some genetic predisposition.

Can polycythemia vera be cured?

Currently, there is no cure for polycythemia vera. However, the condition can be effectively managed with appropriate medical care, allowing many people to live relatively normal lives. Management focuses on reducing the risk of complications and controlling symptoms. Regular monitoring by a healthcare provider is essential.

What complications can arise from untreated polycythemia vera?

Untreated PV can lead to serious complications including blood clots (which can cause stroke, heart attack, or pulmonary embolism), bleeding problems, enlarged spleen, gout, peptic ulcers, and in rare cases, transformation to acute leukemia or myelofibrosis. This is why proper medical management is crucial.

How common is polycythemia vera?

Polycythemia vera is a rare condition, affecting approximately 1-2 people per 100,000 annually. It’s estimated that around 50-100 people per million have PV. The condition is more common in people over age 60 and slightly more frequent in men than women.

Can lifestyle changes help manage polycythemia vera symptoms?

While lifestyle changes cannot cure PV, certain modifications can help manage symptoms and reduce complications. These include staying well-hydrated, avoiding tobacco, limiting alcohol consumption, protecting skin from excessive sun exposure, and maintaining a healthy weight. Taking lukewarm rather than hot showers may help reduce itching. Always consult with your healthcare provider before making significant lifestyle changes.

When should I see a doctor about possible polycythemia vera symptoms?

You should consult a doctor if you experience persistent symptoms such as unexplained itching (especially after bathing), unusual fatigue, frequent headaches, vision problems, easy bruising or bleeding, or notice a persistent reddish complexion. If you have concerning symptoms or abnormal blood test results, seek evaluation by a healthcare provider, preferably a hematologist.

References:

• Mayo Clinic – Polycythemia Vera
• National Cancer Institute – Myeloproliferative Neoplasms
• National Heart, Lung, and Blood Institute – Polycythemia Vera
• Johns Hopkins Medicine – Polycythemia Vera
• Cancer Research UK – Polycythaemia Vera