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Understanding Polycythemia Vera: Symptoms, Causes, and Treatment Options

Jerome Albert Ecker | MD

Medically reviewed by Jerome Albert Ecker | MD, Assistant Professor of Medicine, Duke University - Durham, NC on September 17th, 2023.

Key Takeaways

  • This rare myeloproliferative neoplasm affects 2-3 people per 100,000, causing hematocrit levels to rise above 48% in women and 52% in men as bone marrow overproduces red blood cells.

  • The hallmark JAK2 V617F mutation is present in 95% of cases and develops spontaneously during life rather than being inherited, leading to uncontrolled blood cell production.

  • Aquagenic pruritus—intense itching triggered by warm water—occurs in 40% of patients and can be the first symptom, often years before diagnosis.

  • Phlebotomy removes 450-500mL of blood every 1-2 weeks initially, aiming to maintain hematocrit below 45% to reduce thrombotic risk by approximately 4-fold.

  • Hydroxyurea starting at 15mg/kg daily can control blood counts but carries a small risk of secondary leukemia, while newer JAK2 inhibitors like ruxolitinib target the underlying mutation.

Polycythemia vera (PV) is a rare blood cancer that starts in the bone marrow, the soft center of the bones where new blood cells are produced. In people with PV, the bone marrow makes too many red blood cells, causing the blood to become thick and flow slowly. This increases the risk of blood clots, which can lead to serious complications like heart attacks or strokes.

PV is a slow-growing cancer that typically develops over many years, and is due to a mutation in the JAK2 gene. While it can be life-threatening if left untreated, proper care and management can help people with PV live long, fulfilling lives. The condition is most often diagnosed in people over 60 years old, but it can occur at any age and is more common in men than women.

Symptoms of Polycythemia Vera

In the early stages of PV, many people do not experience any symptoms. As the condition progresses, common signs and symptoms may include:

  • Headaches

  • Dizziness

  • Weakness

  • Itching (especially after warm showers or baths)

  • Sweating (particularly at night)

  • Blurred or double vision

  • Shortness of breath

  • Painful joint swelling due to gout

  • Redness or a feeling of fullness in the face

Causes of Polycythemia Vera

PV is caused by a mutation in the JAK2 or TET2 gene, which leads to the overproduction of red blood cells. In most cases, this genetic change occurs during a person's lifetime and is not inherited from parents. However, in rare instances, the faulty gene can be passed down from parent to child.

Understanding Polycythemia Vera: Symptoms, Causes, and Treatment Options

Complications of Polycythemia Vera

If not properly managed, PV can lead to various complications, such as:

  • Blood clots (which may cause heart attacks, strokes, or deep vein thrombosis)

  • Enlarged spleen or liver

  • Chest pain or heart failure (due to reduced blood flow to organs)

  • Stomach ulcers

  • Gout

  • Kidney stones

In some cases, PV can progress to more serious blood disorders, such as acute leukemia or myelofibrosis.

Diagnosing Polycythemia Vera

To diagnose PV, your doctor will perform a physical exam and ask about your symptoms. They may also order blood tests, such as:

  • Complete blood count (CBC) to measure the number of red blood cells, white blood cells, and platelets

  • Blood smear to check for other diseases sometimes linked to PV

  • EPO level test to measure the amount of erythropoietin (a hormone that stimulates red blood cell production) in your blood

  • JAK2 mutation testing (positive in 95% of cases)

In some cases, a bone marrow biopsy may be necessary to confirm the diagnosis. This procedure involves removing a small sample of bone marrow, usually from the hip bone, for examination under a microscope.

Treatment Options for Polycythemia Vera

Treatment for PV aims to reduce the number of red blood cells in the body and prevent complications. The most common treatments include:

  • Phlebotomy (blood removal) to thin the blood and improve circulation

  • Low-dose aspirin to reduce the risk of blood clots

  • Medications such as hydroxyurea, interferon alfa, or ruxolitinib to lower blood cell production

  • JAK inhibitors (ruxolitinib)

  • Antihistamines to relieve persistent itching

In addition to medical treatment, lifestyle changes can help manage PV symptoms and reduce the risk of complications. These include not smoking, engaging in light exercise, and taking cool showers or baths to alleviate itching.

While there is no cure for polycythemia vera, proper treatment and management can help people with this condition live long, healthy lives. If you have been diagnosed with PV, it's essential to work closely with your healthcare team and seek support from loved ones or support groups when needed.

The Bottom Line

Early diagnosis through complete blood count and JAK2 mutation testing is crucial since untreated cases have significantly higher stroke and heart attack risks. Most patients achieve normal life expectancy with proper hematocrit control through phlebotomy and medications. If you're experiencing unexplained itching after showers, persistent headaches, or facial redness, Doctronic can help connect you with specialists for prompt evaluation.

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