Polycythemia Vera

Polycythemia vera is a bone marrow disease that leads to an abnormal increase in the number of blood cells. The red blood cells are mostly affected.

Alternative Names

Primary polycythemia; Polycythemia rubra vera; Myeloproliferative disorder; Erythremia; Splenomegalic polycythemia; Vaquez's disease; Osler's disease; Polycythemia with chronic cyanosis - Myelopathic polycythemia; Erythrocytosis megalosplenica; Cryptogenic polycythemia

Causes

Polycythemia vera is a disorder of the bone marrow. It mainly causes too many red blood cells to be produced. The numbers of white blood cells and platelets may also be higher than normal.

This is a rare disorder that occurs more often in men than in women. It is not usually seen in people under age 40. The problem is often linked to a gene defect called JAK2V617F. The cause of this gene defect is unknown.

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Symptoms

Symptoms may include any of the following:

Trouble breathing when lying down
Dizziness
Excess bleeding
Full feeling in the left upper abdomen (due to enlarged spleen)
Headache
Itchiness, especially after a warm bath
Red skin coloring, especially of the face
Shortness of breath
Symptoms of blood clots in veins near the skin surface (phlebitis)

Other symptoms that may occur with this disease:

Exams and Tests

The health care provider will perform a physical exam. You may also have the following tests:

This disease may also affect the results of the following tests:

Treatment

The goal of treatment is to reduce the thickness of the blood and prevent bleeding and clotting problems.

A method called phlebotomy is used to decrease blood thickness. One unit of blood (about 1 pint or 1/2 liter) is removed each week until the number of red blood cells drops. The treatment is continued as needed.

Medicines that may be used include:

Hydroxyurea to reduce the number of red blood cells made by the bone marrow. This drug may be used when the numbers of other blood cell types are also high.
Interferon to lower blood counts.
Anagrelide to lower platelet counts
Ruxolitinib (Jakafi) to reduce the number of red blood cells and reduce an enlarged spleen. This drug is prescribed when hydroxyurea and other treatments have failed.

Taking aspirin to reduce the risk of blood clots may be an option for some people. But, aspirin increase the risk of stomach bleeding.

Ultraviolet-B light therapy can reduce the severe itching some people experience.

Outlook (Prognosis)

The disease usually develops slowly. Most people do not have symptoms related to the disease at the time of diagnosis. The condition is often diagnosed before severe symptoms occur.

Possible Complications

Complications may include:

Acute myelogenous leukemia (AML)
Bleeding from the stomach or other parts of the intestinal tract
Gout
Heart failure
Myelofibrosis
Thrombosis (blood clotting, which can cause a stroke, heart attack, or other body damage)

When to Contact a Medical Professional

Call your health care provider if symptoms of polycythemia vera develop.

References

Kremyanskaya M, Najfeld V, Mascarenhas J, Hoffman R. The polycythemias. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 67.

National Cancer Institute: PDQ Chronic Myeloproliferative Neoplasms Treatment: Polycythemia Vera. Bethesda, MD: National Cancer Institute. Date last modified December 3, 2014. Available at: www.cancer.gov/cancertopics/pdq/treatment/myeloproliferative/HealthProfessional/page3. Accessed March 3, 2015.

Tefferi A. Polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 166.