Polycythemia Vera – Causes, Symptoms, Diagnosis, And Treatment
What is polycythemia vera?
Polycythemia vera (PV) is a blood disease characterized by too many red blood cells in the bloodstream. Excessive red blood cells result in thicker blood. As a result, blood clots can form more easily and also the blood flows slower than normal. The numbers of white blood cells and platelets may also be higher than normal.
PV is a rare disorder that occurs more often in men than in women. It is not usually seen in people under age 40.
What causes polycythemia vera?
A gene defect called JAK2V617F causes polycythemia vera. What causes this gene defect is not known. This results in a bone marrow disorder, leading to the production of too many red blood cells.
What are the symptoms of polycythemia vera?
The following are the symptoms of PV:
- Bluish skin
- Feeling tired all the time
- Excess bleeding, such as bleeding into the skin
- Full feeling in the left upper abdomen (due to enlarged spleen)
- Trouble breathing when lying down
- Itchiness, especially after a warm bath
- Red skin coloring, especially of the face
- Shortness of breath
- Phlebitis (symptoms of blood clots in veins near the skin surface)
- Vision problems
How is polycythemia vera diagnosed?
The doctor will perform a physical exam and review the symptoms. He/she may order the following tests:
- Bone marrow biopsy
- Complete blood count with differential
- Erythropoietin level
- A genetic test for the JAK2V617F mutation
- Comprehensive metabolic panel
- Oxygen saturation of the blood
- Red blood cell mass
- Vitamin B12 level
Polycythemia vera can also affect the results of the following tests:
- Lactate dehydrogenase (LDH)
- Leukocyte alkaline phosphatase
- Platelet aggregation test
- Serum uric acid
How is polycythemia vera treated?
The focus of the treatment would be on reducing the thickness of the blood and preventing bleeding and clotting problems.
Doctors usually remove one-half liter of blood weekly by phlebotomy to decrease blood thickness. Phlebotomy is done each week until the number of red blood cells drops.
The doctor may prescribe the following medicines:
- Hydroxyurea to reduce the number of red blood cells made by the bone marrow. This drug is used when the numbers of other blood cell types are also high.
- Interferon to lower blood counts.
- Anagrelide to lower platelet counts.
- Ruxolitinib (Jakafi) to reduce the number of red blood cells and reduce an enlarged spleen. This drug is prescribed when hydroxyurea and other treatments have failed.
The doctor may also recommend taking aspirin to reduce the risk of blood clots.
This feature is for informational purposes only and is not intended to substitute the expert guidance of a doctor. We advise seeing a doctor if you have any health concerns.