Is Polycythemia a Cancer? Causes, Symptoms, Treatment

Polycythemia is the result of increased demand for oxygen in the body. It occurs when hemoglobin cannot carry the required amount of oxygen from the lungs. There are two main causes of polycythemia, which determine each type.

1. Primary polycythemia vera: Occurs due to a hereditary genetic mutation. Typically, all individuals diagnosed with polycythemia have a mutated JAK2 gene. In most cases, polycythemia is not innate (passed down through generations), yet it is genetic in a few cases. Changes in the TET2 gene are also found in polycythemia cells.
2. Secondary polycythemia (acquired): Occurs in individuals with low degrees of oxygen in their blood for extensive stretches of time. The lack of oxygen for longer durations causes the body to produce higher amounts of erythropoietin, which is a hormone produced by the kidneys that signal the bone marrow cells to produce red blood cells. An excessive amount of erythropoietin in the body can result in the production of a large number of red blood cells due to any underlying acquired cause.

Chronic pulmonary disease (e.g., emphysema, which is abnormal distension of the lungs with air) and extreme obesity (which may severely impair pulmonary ventilation) result in absolute polycythemia (Pickwickian syndrome). Congenital heart disorders, enzymatic or hemoglobin abnormality, excessive use of coal tar derivatives, and tumors can also cause polycythemia.

Polycythemia is further subdivided into categories:

• Relative: Occurs post blood volume loss in the body.
• Transient: When many red blood cells unexpectedly enter circulation from storage.
• Absolute: Increase in the actual mass of red blood cells in the body.

Relative polycythemia may be the result of abnormally high fluid intake or excessive loss of body fluid, for example, severe vomiting, diarrhea, or non-stop sweating. Relative and transient polycythemia go away when the underlying condition that has caused it is treated. Absolute polycythemia, however, is when the exact cause is known and is called erythrocytosis.

In rare cases, neonatal polycythemia may occur due to the transfusion of placental blood to the baby or chronic oxygen insufficiency of the fetus (intrauterine hypoxia) due to placental inadequacy.

Symptoms of polycythemia occur gradually over time. The condition may be diagnosed during a normal blood examination or when examining another condition. Symptoms may include:

• Dizziness or vertigo
• Headaches
• Excessive sweating
• Itchy skin
• Ringing in the ears
• Blurred vision
• Fatigue
• Reddish or purplish skin on the palms, earlobes, and nose
• Bleeding or bruising
• Burning sensation in the feet
• Abdominal fullness

Patients with polycythemia may have other blood disorders as well. Consequently, itching post-shower (post-bath pruritus) and joint pain may present as symptoms.

Polycythemia can be diagnosed through a blood test to check:

• Number of red blood cells (red blood cell count)
• How much space the red blood cells take up in the blood (hematocrit level)

A high concentration of red blood cells indicates polycythemia. To confirm the diagnosis and determine the underlying cause, more tests may be conducted:

• Blood test to identify changes in the JAK2 gene
• Ultrasound scan of the abdomen to identify problems in the kidneys

The goal of treatment for polycythemia is to reduce the volume of red blood cells to control symptoms and complications and treat any underlying causes.

• Venesection (removing blood): Venesection is the quickest method to reduce the number of red blood cells in the blood. Venesection includes the removal of about 16.9 ounces (half a liter) of blood at a time. Initially, treatment may be required every week, but once polycythemia is under control, it may only be needed every 6-12 weeks or less.
• Medications to help reduce red blood cells: Medication may be prescribed to slow down the production of red blood cells. A wide range of drugs are available, and the patient’s age, health, and red blood cell count should be taken under consideration when choosing the most appropriate treatment. Examples include:
  • Hydroxycarbamide: Administered daily
  • Interferon: Administered via infusion into the abdomen or thigh 1-3 times a week
• Medications to prevent blood clots: Daily low-dose aspirin pills may be prescribed to help prevent blood clots and reduce the risk of other serious complications, such as coronary heart disease or cerebrovascular disease.
• Radiation therapy: Occasionally, radiation therapy in the form of radioactive phosphorus may be necessary to restrain the overactivity of the bone marrow cells and help reduce the production of red blood cells.
• Lifestyle changes: Making lifestyle changes can help reduce the risk of possibly serious complications for all types of polycythemias:
  • Losing excess weight
  • Managing blood pressure
  • Eating a heart-healthy diet
  • Quitting smoking

If left untreated, polycythemia can cause and increase the risk of serious issues, such as:

• Pneumonic embolism, which is a blockage in the vein that carries blood from the heart to the lungs
• Deep vein thrombosis (DVT), which is a blockage that forms in the veins in the legs
• Heart attack and stroke

Seek medical assistance immediately if there are indications of DVT or a pulmonary embolism. Symptoms include:

• Pain, swelling, redness, and tenderness in one of the legs
• Heavy ache in the affected area
• Warm skin around the clot
• Breathlessness
• Chest or upper back pain
• Coughing up blood
• Feeling lightheaded or dizzy
• Fainting