Polycythemia Vera

Secondary erythrocytosis may result from cigarette smoking, chronic respiratory insufficiency, and congenital cyanotic heart disease.  In some types of employment, it is also possible to encounter exposure with carbon monoxide, and this too may affect red cells [1].

Uncommonly, humans may produce too much erythropoietin, a hormone that regulates the amount of red blood cells in the body.  Such a situation can be the result of a tumor that generates excessive amount of the hormone [1].

Moreover, some clients who take male sex hormone supplements or abuse erythropoietin itself may experience high levels of red cells in the peripheral blood.  The receipt of a kidney transplant is another possible source of the problem as the hormone erythropoietin naturally originates from that organ [1].

People who reside at high altitudes may also carry high red cell counts [1].

Rarely, it can also be a hereditary condition such as benign familial polycythemia, and the inheritance pattern may be either autosomal dominant or autosomal recessive.  The type of transmission will, of course, depend on where the genetic mutation takes place [2].

Spurious polycythemia may occur when the plasma volume decreases dramatically, and this will lead to an excessive concentration of red cells relative to the fluid which is present [1].  The word “spurious” alludes to something which is neither genuine nor authentic; hence, this form of disease has its name because the abnormal red cell concentration is the consequence of low plasma volume rather than too many red cells.

Patients with polycythemia may suffer from headaches, dizzy spells, or a feeling of heaviness.  They may have blood clots because of the large numbers of red cells which have to pass through  vessels.  Conversely, they may also display a tendency to bleed more than usual.  Other complaints may include itching after they encounter hot water.  Also, the hands and feet may become red, swollen, or painful in these individuals [1, 2].

Two-thirds of people with polycythemia vera have enlargement of the spleen.  Moreover, some individuals with this blood dyscrasia will have gout [1]. 

When the red cell parameters such as hemoglobin or hematocrit decrease, these clinical signs and symptoms resolve [1].  Therefore, the use of phlebotomy has long been a treatment for this condition.

To distinguish between secondary erythrocytosis and polycythemia vera, a blood level for erythropoietin may be helpful.  Additionally, the Janus kinase 2 (JAK2) molecular test is also useful for diagnosis and management.  Specifically, the absence of JAK2 mutation essentially eliminates the possibility of polycythemia vera [1, 2].

As the bone marrow of patients who have polycythemia vera contains an unusually large amount of immature cells, this presence of hypercellularity on bone marrow biopsy is a major diagnostic tool to determine whether the person actually has the condition [1].  

There has been much progress in the diagnosis and management of polycythemia vera, and early screening and assessment will lead to the best possible outcome for the patient.

1. Patell, R., Theil, K., and Lichtin, A.  (2016).  Erythrocytosis due to presumed polycythemia vera.  Cleveland Clinic Journal of Medicine, 83, 648-653.
2. U.S. National Library of Medicine.  Genetics Home Reference.  (2016).  Polycythemia vera.  Retrieved September 24, 2016.
3. The photomicrograph shows a peripheral blood smear and is reprinted with permission from the U.S. Centers for Disease Control/Dr. Candler Ballard.

The information contained in this article is for educational purposes only and should not be used for diagnosis or to guide treatment without the opinion of a health professional. Any reader who is concerned about his or her health should contact their physician for advice.