Polycythemia vera symptoms
and diagnosis

What causes polycythemia vera (PV)?

PV is caused by a mutation or change in a person’s DNA or genes. Most often this is due to a mutation in the JAK2 gene. The JAK2 gene helps control how many blood cells your bone marrow makes. When it isn’t working properly, your body may produce too many red blood cells, which is what leads to PV.

Recognize and track the symptoms of PV

PV can cause symptoms that may be mistaken for aging. It’s important to know the difference. Symptoms of PV may include:
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Symptoms of iron deficiency

  • Tiredness (fatigue)
  • Problems with concentration (brain fog)
  • Physical inactivity
  • Weakness and dizziness
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Enlarged spleen from processing red blood cells

  • Early feeling of fullness (satiety)
  • Abdominal pain or discomfort
  • Cough
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Full body symptoms

  • Night sweats
  • Itching (pruritus) especially after taking a shower
  • Bone pain
  • Fever
  • Unintentional weight loss (more than 10 pounds, within the last 6 months)

A subset of people are asymptomatic or minimally symptomatic.

Consider writing down symptoms or using a tracking tool so you don’t forget anything.

This can make your time with your doctor even more valuable as you discuss what’s bothering you most with your PV.

The path to diagnosis

People may discover they have PV in different ways. The most common way is through a routine blood test that shows high hematocrit (HCT) counts (too many red  blood cells).

When this happens, your doctor may then refer you to a specialist, who might conduct at least one of the following tests:

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A genetic test 

PV is caused by a mutation or change in a person’s DNA or genes. Most often, this mutation occurs in the JAK2 gene.

A genetic test is used to confirm the diagnosis of PV, as JAK2 mutations appear in 98%-99% of people with PV. This gene is responsible for cell growth and controlling the number of cells that are made in the bone marrow.

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A bone marrow biopsy 

is another way to confirm a PV diagnosis. 

It’s a test where a healthcare provider takes a small sample of the soft tissue inside your bones (called bone marrow) to check how your body is making blood cells. This helps doctors understand if there are any signs of PV.

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A smaller group of people (~30%) experience a blood clot, stroke, or heart attack, which can also lead to a PV diagnosis.

What does high or low risk mean in PV?

High risk: > 60 years old or history of blood clots, Low risk: ≤ 60 years old + no history of blood clots

PV risk types

After you have been diagnosed, your doctor will place you into one of two risk categories that will help determine your treatment. 

  • Low risk: Age 60 or younger and no history of a blood clot
  • High risk: Over 60 years old or with a history of blood clots

Most people with PV fall into the high-risk category, which means they are at greater risk for serious complications of PV. However, even people with low-risk PV experience PV symptom burdens—approximately 95% of people with low-risk PV report at least 1 symptom.

Learn how PV symptoms can impact your day-to-day life