Polycythemia Vera

Overview

Polycythemia vera is a blood disorder in which the bone marrow makes too many red blood cells, and sometimes too many white blood cells and platelets. These extra blood cells thicken the blood and slow circulation, which can increase the risk of blood clots, heart attack, and stroke.

PV is considered a myeloproliferative neoplasm (a type of blood cancer) that develops slowly and may go unnoticed for years.

Although anyone can develop PV, it is more common in adults over age 60.

What causes Polycythemia Vera?

The exact cause of PV is unknown. However:

Most people with PV have a genetic change involving the JAK2 gene, which affects how the bone marrow produces blood cells. This mutation develops during life and is not inherited from parents.

Things like smoking, living at high altitude, and certain congenital heart conditions may contribute to the development of the disorder, though these are not considered primary causes.

Symptoms

Many people have no symptoms, and PV is often found through routine blood testing. When symptoms do occur, they may include:

Common Symptoms

Headache, dizziness, tiredness or weakness
Itching after a warm bath or shower (aquagenic pruritus)
Sweating or night sweats
Blurred vision or brief vision changes
A feeling of fullness after eating, due to an enlarged spleen
Tingling, burning, numbness, or redness of the hands or feet
Unusual bleeding such as nosebleeds or bleeding gums
Painful swelling of a joint (often the big toe)

More Serious Concerns

Thicker blood and abnormal platelets increase the risk of blood clots, which may cause stroke, heart attack, or clots in the legs or lungs.

PV may also progress to conditions such as myelofibrosis or acute myeloid leukemia in some patients.

How Polycythemia Vera is Diagnosed

Diagnosis typically includes:

Physical Exam

and review of symptoms

Blood Tests

measuring red blood cell count, hemoglobin, and hematocrit (all are elevated in PV)

Genetic Testing

for the JAK2 mutation, which is found in the vast majority of PV cases

Bone Marrow Biopsy

to look for abnormal cell production when needed

Doctors may also rule out other causes of high red blood cell levels, such as lung disease or chronic low‑oxygen states.

Treatment Options

Because PV cannot be cured, treatment focuses on:

Reducing the number of red blood cells
Improving blood flow
Preventing blood clots and other complications
Controlling symptoms

Standard Treatments

Removal of a unit of blood to lower red blood cell levels.

Helps reduce blood clot risk.

Used to suppress bone marrow activity in patients at higher risk or with significant symptoms.

Include interferon therapy and targeted medicines such as ruxolitinib, especially for patients who do not tolerate first‑line medications.

Prognosis

PV is a chronic condition, and with proper medical care, many people live for many years. However, ongoing monitoring is essential, as PV can lead to other and more severe diseases, such as acute myeloid leukemia and myelofibrosis.

Consistent treatment and follow‑up significantly reduce complications and improve long‑term outcomes.

Why Choose Illinois CancerCare

A blood disorder diagnosis can feel overwhelming. At Illinois CancerCare, we are committed to ensuring you never have to face it alone. Providing advanced, comprehensive hematology and oncology care for our patients is at the heart of everything we do. Since 1977, our specialists have focused on individualized, evidence-based treatment plans, access to world-class clinical trials, and thorough follow-up. With Illinois CancerCare, you can move forward with confidence knowing trusted expertise and compassionate support are always close to home.‑based treatment plans, access to world‑class clinical trials, and thorough follow‑up.

Sources & Patient Friendly References

Information sourced from Mayo Clinic and Cleveland Clinic.