Also known as: Polycythemia vera, primary polycythemia, secondary polycythemia, newborn polycythemia, PFCP.

What is polycythemia?

Polycythemia is a rare and serious blood disease that causes the bone marrow to produce too many red blood cells to circulate in the blood stream. This causes the blood to become thicker, makes it more difficult for blood to flow throughout the body, and can lead to blood clots. 

What are the types of polycythemia?

  • Primary or intrinsic polycythemia
  • Secondary or extrinsic polycythemia

Primary polycythemia has three forms:

  1. Newborn polycythemia
  2. Primary familial/congenital polycythemia (PFCP)
  3. Polycythemia vera

Secondary polycythemia may be congenital (e.g. hemoglobin variants) or acquired.

What causes polycythemia?

Primary polycythemia is caused by an acquired or inherited gene mutation.

Secondary polycythemia is due to outside factors like:

These factors stimulate erythropoiesis (red cell production).

What are the symptoms of polycythemia?

Children with polycythemia frequently have no symptoms. When present, common symptoms include:

  • changes in skin color to red/purple tones
  • feeding problems
  • headaches
  • trouble breathing
  • dizziness
  • itchiness
  • and weakness/tingling of hands and feet.

How is polycythemia diagnosed?

The diagnosis of polycythemia typically begins with a physical exam and medical history. A blood test can also help with diagnosis by revealing more red blood cells than normal or a higher level of hemoglobin (iron-rich protein in the blood).

If these factors are present, an aspiration or biopsy of bone marrow may be needed to confirm the diagnosis. An aspiration involves gathering a liquid sample of bone marrow, while a biopsy gathers a solid sample. Genetic testing may also be utilized to determine if a genetic mutation is present.

What are polycythemia care options?

Several different treatments and lifestyle modifications can be useful in the treatment and management of polycythemia. They include:

  • Withdrawing blood. The most common treatment for polycythemia is blood withdrawals to reduce the number of excess blood cells. This blood withdrawal is known as phlebotomy, and it’s similar to the process of donating blood. The frequency of withdrawals can vary based on how severe the condition is.
  • Medication to reduce red blood cells. When blood withdrawals alone are not enough, your doctor may prescribe a medication to reduce excess blood cells, such as interferon alfa-2b, hydroxyurea, busulfan or ruxolitinib.
  • Heart medications. Since heart-related symptoms can occur with polycythemia, you may also need medications to control symptoms such as high blood pressure, diabetes or cholesterol. Low-dose aspirin to reduce blood clot risk is another common recommendation.
  • Itching treatments. Itchiness is a common symptom, so UV treatments or medications to control itching can also help.
  • Lifestyle factors. If you have polycythemia, then lifestyle modifications such as a good skincare routine, avoiding tobacco, exercising regularly, taking care of sores or wounds and avoiding extreme temperatures or low-oxygen environments can all be helpful.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: May 22, 2024 02:59 PM

Pediatric Blood & Bone Marrow Transplant Center

South Florida's first and most experienced care provider for children requiring blood or bone marrow transplantation.

Learn More