Polycythemia Vera

What is Polycythemia Vera?

Polycythemia Vera is a medical condition (disorder) that affects a person’s bone marrow. More specifically, this condition is often referred to as a type of blood cancer because it involves a mutation that causes the overproduction of certain types of cells.  It is known to be a cancer of the blood that grows slowly, but it is distinguished from other types of cancer in that it is chronic and incurable.

When a person suffers from polycythemia vera, their bone marrow produces too many blood cells. This blood disorder can affect white blood cells and platelets, but is often most pronounced in red blood cell production and levels. If the bone marrow produces too many red blood cells as occurs with polycythemia vera, the blood becomes overly thick. This can increase a person’s risk of developing blood clots and having other major health crises including heart attack and stroke.

This serious blood condition occurs more often in men than it does in women and often is not detected until a person is more than 40 years old. Polycythemia vera may be caused by a genetic mutation that occurs in the protein known as JAK2 and is known as the JAK2 V617F mutation. While many cases of polycythemia vera involve this mutation, it is not known with certainty if this is a direct cause of the condition.

What are the Symptoms of Polycythemia Vera?

Shortness of breath and trouble breathing when the person is laying down are common symptoms of polycythemia vera. A person may also experience weakness, fatigue, chronic headaches, itchy skin and dizziness. Other symptoms of polycythemia vera are bleeding, full feeling in the abdomen, numbness in the extremities, and symptoms of blood clots.

Polycythemia Vera Causes

Polycythemia Vera (PV) is a form of cancer of the blood. It develops slowly over time. Essentially, the bone marrow produces excessive red blood cells which “thicken” the blood, causing issues in veins and arteries. It can lead to the formation of blood clots, which can cause Deep Vein Thrombosis, or those clots can move to a vital organ and lead to very serious events such as heart attacks or strokes. Polycythemia Vera can cause an enlarged spleen, as that organ cannot filter the excess of red blood cells. A poorly functioning spleen can depress the immune system of the patient making it harder for him or her to fight infection. If left untreated, PV can lead to the development of other cancers of the blood such as leukemia or myelofibrosis. Polycythemia Vera is caused by a genetic mutation, but is not hereditary.

How is Polycythemia Vera Treated?

Because polycythemia vera has no cure, the treatments available are about managing the condition. The goal is to reduce blood thickness and the likelihood of blood clots as well as to prevent possible excessive bleeding. Regular phlebotomy procedures can help the person reduce the thickness of their blood by removing around a pint of blood a week until the blood cell levels are at desirable levels. Prescription medications can also be used to reduce red blood cell production, or other blood cell levels in the body. If itching is a problem, the person may also be able to use light therapy to help with the discomfort.

Polycythemia Vera Prevention

Prevention of Polycythemia Vera is difficult because it is caused by a genetic mutation. That mutation occurs most frequently in the JAK2 gene which provides instructions to the body on how to create red blood cells. When the mutation occurs, that gene becomes overactive, leading to the production of far too many red blood cells. Another, less frequent mutation can happen in the TET2 gene. There is some research indicating that the mutations may be caused by too much exposure to radiation, so limiting that exposure could be preventive. This would be especially true if a patient had genetic testing and knew he was at risk of developing PV. There is also some thought that exposure to certain toxins may lead to mutations of those particular genes, but more research needs to be done before that could be considered conclusive. Genetic testing can indicate if a person is at risk of developing Polycythemia Vera which may prove helpful in an early diagnosis. PV can be treated and early and effective treatment would prevent the disease from progressing to other more serious cancers and health issues.