Polycythemia Vera (PV) Diagnostics: Essential Tests and Key Lab Values

Polycythemia Vera (PV) is a rare blood cancer that frequently goes unnoticed until a routine doctor’s appointment for unrelated health concerns. Your physician will evaluate your symptoms and order specific tests to confirm a PV diagnosis.

Typically, PV is not diagnosed solely through a physical exam, but your doctor may notice signs such as bleeding gums or a flushed complexion during a check-up.

If PV is suspected, your doctor may perform a physical examination of your spleen and liver to detect any enlargement, which can be indicative of the disease.

To accurately diagnose PV, one or more of the following tests are commonly utilized:

Complete Blood Count (CBC)

The CBC test measures red blood cells, white blood cells, and platelets in your bloodstream. It also assesses hemoglobin levels, a crucial iron-rich protein responsible for oxygen transport from lungs to tissues.

In PV, hemoglobin levels are typically elevated due to an increased number of red blood cells. Hematocrit, which reflects the proportion of red blood cells in your blood, is also higher than normal in PV cases.

Typical adult thresholds suggestive of PV include:

	Assigned Female at Birth (AFAB)	Assigned Male at Birth (AMAB)
Hemoglobin	16.0 g/dL	16.5 g/dL
Hematocrit	>48%	>49%

However, hemoglobin and hematocrit levels alone may not definitively indicate PV, as plasma volume changes or iron deficiencies can affect results. Elevated white blood cell and platelet counts may also be present but are not consistent.

Therefore, a high red blood cell count is often a more reliable marker, though other causes must be excluded.

Blood Smear Analysis

Examining a blood smear under a microscope allows visualization of blood cell size, shape, and abnormalities. This test helps identify irregular red and white blood cells and platelets, which may signal complications like myelofibrosis—a severe bone marrow scarring condition linked to PV.

Erythropoietin (EPO) Level Test

This blood test measures erythropoietin hormone levels, produced by kidney cells to stimulate red blood cell production in bone marrow.

In PV, EPO levels are typically low because red blood cell overproduction is driven by a mutation in the JAK2 gene, not by EPO signaling.

Adult EPO values below 2.6-18.5 mUI/mL may suggest PV, although lower EPO is more commonly associated with non-cancerous causes of polycythemia.

Bone Marrow Examination

Bone marrow tests assess whether blood cell production is excessive or abnormal. In PV, the bone marrow produces too many red blood cells continuously.

There are two main procedures:

• Bone marrow aspiration: removal of marrow fluid with a needle.
• Bone marrow biopsy: extraction of a small solid marrow sample.

These samples are analyzed by hematologists or pathologists, with results typically reported to your doctor within days.

Testing for the JAK2 Mutation

The identification of the JAK2 gene mutation in 2005 revolutionized PV diagnosis. This mutation is present in approximately 98% of PV patients and disrupts normal cell signaling, causing excessive blood cell production.

Both blood and bone marrow samples can be tested for this mutation, facilitating a more definitive diagnosis.

Frequently Asked Questions

How is polycythemia vera diagnosed?

Only healthcare professionals can diagnose PV using blood tests, blood smears, and bone marrow examinations, combined with evaluation of symptoms such as fatigue, itching, and difficulty breathing when lying down. As red blood cells accumulate, symptoms may worsen, including heavy bleeding, joint swelling, or bone pain.

Is polycythemia vera a type of cancer?

Yes, PV is a blood cancer characterized by the bone marrow producing excessive red blood cells, which can impair normal blood flow.

What is the prognosis for someone with polycythemia vera?

With appropriate treatment, many individuals live at least 14 years post-diagnosis. Younger patients often have a more favorable prognosis, though overall outlook depends on various health factors.

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Summary

Although polycythemia vera is uncommon, early detection through blood testing is crucial for timely management. If diagnosed, your healthcare provider will tailor treatment based on your age, disease stage, and overall health to effectively control symptoms and improve quality of life.

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