How Is Polycythemia Vera Diagnosed?

Polycythemia vera (PV) is diagnosed through a series of tests that examine the blood and bone marrow. The process usually begins with a physical examination where the doctor checks for physical signs of PV such as an enlarged spleen, red skin on your face and bleeding from your gums. If PV is suspected, the following tests may be conducted:

What are Tests for Diagnosing PV?

• Complete blood count (CBC): This test measures the number of red blood cells, white blood cells, and platelets in a sample of blood. In polycythemia vera, the red blood cell count is typically higher than normal. People who have PV also may have high white blood cell and/or platelet counts. The CBC also checks your hemoglobin and hematocrit levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A high level of hemoglobin or hematocrit may be a sign of PV.
• Erythropoietin level (EPO): Erythropoietin is a hormone that stimulates the production of red blood cells. In PV, the level of this hormone is usually much lower than usual.
• Genetic testing: Most people with PV have a mutation in the JAK2 gene. This test can confirm the presence of this mutation and can be completed using a blood or bone marrow sample.
• Bone marrow aspiration and biopsy: These tests involve removing a small amount of bone marrow tissue, usually from the hip bone, for examination under a microscope. The results can show whether the bone marrow is producing too many red blood cells.
• Ultrasound: An ultrasound of the spleen can help determine if it's enlarged, which is common in people with PV. 

What are the Diagnostic Criteria for Polycythemia Vera?

According to the most recent guidelines, the diagnosis of polycythemia vera (PV) is based on three main criteria:

1. A high red blood cell count, shown by elevated hemoglobin (over 16.5 g/dL in males or 16.0 g/dL in females), hematocrit (over 49% in males or 48% in females), or red cell mass. 
2. Bone marrow showing an increased number of myeloid blood cells (called hypercellularity).
3. The presence of a JAK2 mutation, usually JAK2 V617F or less commonly JAK2 exon 12. If there is no JAK2 mutation found, PV can still be diagnosed if the first two major criteria are met, along with low erythropoietin (EPO) levels, which is considered a minor criterion.

A Summary of Diagnosing Polycythemia Vera

Diagnosing PV involves a comprehensive evaluation that includes a physical examination, patient history, and a series of tests. Blood tests are used to measure the number of blood cells and check for the JAK2 mutation. Bone marrow tests can confirm the overproduction of red blood cells. Imaging tests can reveal an enlarged spleen, another common sign of the condition. Together, these tests provide a clear picture of the patient's condition and help guide treatment decisions.

If you don't currently have a PV specialist on your team, it is important that you consult with one. Use HealthTree's PV Specialist Directory to locate a specialist near you. 

Stay up to date with the latest polycythemia vera news

Discover breaking research, treatment updates, patient stories, and educational events tailored for the MPN community.

Read PV News