Polycythemia vera is a rare type of blood cancer caused by uncontrolled proliferation (rapid production) of red blood cells, white blood cells, and platelets by the bone marrow. Symptoms include extreme fatigue (tiredness), dizziness, headaches, and nosebleeds.

The increase in these cells in the bloodstream causes the blood to become thicker, impeding normal blood flow and resulting in less oxygen being delivered to the tissues. There is also an increased risk for blood clots, which can lead to thrombosis (blockage of a blood vessel by a blood clot), heart attack, and cerebral vascular accident (CVA or stroke).

Polycythemia vera is treated by a hematologist or a hematologist-oncologist. Treatment should be initiated as soon as possible, and may include phlebotomy (blood draws), medications to alleviate symptoms, or chemotherapy.

Common symptoms

The main symptoms of polycythemia vera include:

Headache;
Extreme fatigue or weakness;
Dizziness;
Ringing in the ears;
Tingling or numbness of the hands, arms, legs, or feet;
Bleeding from the nose, gums, or GI tract;
Joint pain and swelling;
Shortness of breath or difficulty breathing;
Insomnia;
A feeling of fullness soon after eating;
Pain or swelling in the left upper quadrant of the abdomen;
Gastritis or gastric ulcer;
Weight loss;
Generalized itchiness, most commonly after a hot bath or shower.

People with polycythemia vera can also experience vision changes as well as transient ischemic attacks (TIAs).

To confirm a diagnosis, a doctor will typically order a complete blood count (CBC) as well as a genetic test to identify the mutation responsible for polycythemia vera. In some cases a bone marrow biopsy may also be performed.

Confirming a diagnosis

The diagnosis of polycythemia vera is made based on an evaluation of symptoms, medical history, and lab tests.

Lab tests include a CBC, which typically shows an increase in the number of red blood cells (erythrocytes) and hemoglobin, and, in some cases, platelets and white blood cells.

In addition, a doctor may order a bone marrow biopsy to confirm the diagnosis of polycythemia vera and rule out other conditions with similar symptoms, such as leukemia and essential thrombocytopenia.

Possible causes

Polycythemia vera is caused by a genetic mutation in the JAK2 gene, which results in the overproduction of red blood cells, white blood cells, and platelets by the bone marrow.

After being produced in the bone marrow, these cells enter the bloodstream and cause the blood to become thicker. This leads to a variety of associated symptoms.

Polycythemia vera is a rare disease that occurs in approximately two in 100,000 people. It is slightly more common in men than in women. While polycythemia vera can affect people of all ages, it is more common in people over 60.

Treatment options

Treatment for polycythemia vera is managed by a hematologist or hematologist-oncologist. The goal of treatment is to reduce the number of excess cells in the blood, leading to symptom relief and prevention of complications.

The most common treatments indicated for polycythemia vera are:

1. Therapeutic phlebotomy

Therapeutic phlebotomy involves frequent blood draws, as prescribed by a doctor, and is typically the first-line treatment for people with polycythemia vera.

This method reduces the number of excess red blood cells in the bloodstream, reducing blood volume, and should be done in specialized hospitals or clinics.

2. Medications

Medications prescribed by your doctor, such as antihistamines or selective serotonin reuptake inhibitors (SSRIs), can help relieve itchiness that may be caused by this condition.

Doctors may also prescribe the use of 40 to 100 mg of acetylsalicylic acid (aspirin) per day to decrease the risk of blood clots and thrombosis.

Medications to treat high blood pressure, diabetes, and high cholesterol may be prescribed if these conditions are also present.

3. Chemotherapy

Chemotherapy (with agents such as hydroxyurea) may be recommended in certain situations, such as when therapeutic phlebotomy is not enough to adequately reduce the number of blood cells. It may also be considered in people over 60 years of age or in those with a history of thrombosis.

Doctors may recommend the use of ruxolitinib, a tyrosine kinase inhibitor, for patients that do not tolerate treatment with hydroxyurea.

4. Bone marrow transplant

A bone marrow transplant may be indicated for complications arising from polycythemia vera, such as myelofibrosis.

Possible complications

Polycythemia vera can cause complications such as:

Deep venous thrombosis (DVT);
Heart attack;
Stroke;
Pulmonary embolism (PE);
Hemorrhage (heavy bleeding);
Peptic ulcer;
Splenomegaly (enlarged spleen);
Acute leukemia;
Myelodysplastic syndrome.

Myelofibrosis, a condition involving progressive scarring or fibrosis of the bone marrow, can also occur in some cases, resulting in inadequate functioning of the bone marrow and leading to a lack of mature stem cells that produce blood cells.

It is important to contact your doctor with any symptoms of polycythemia vera. This can ensure that a diagnosis is made promptly and treatment is started as soon as possible in order to avoid potentially life-threatening complications.

Prevention of complications

In addition to following the treatments prescribed by your doctor, it is also important to adopt lifestyle changes such as regular physical activity in order to improve circulation and reduce the risk of blood clots.

Smoking should be avoided, as it thickens the blood and increases the risk for heart attack and stroke.

In addition, good skin care is important for relieving itchiness. This involves bathing with warm (not hot) water, using gentle cleansers and hypoallergenic moisturizers, and avoiding extreme temperatures, which can worsen circulation.

This includes avoiding sun exposure during the times of day when the sun is the strongest as well as protecting against the cold.