Refractory Polycythemia vera
What is Refractory Polycythemia Vera?
Refractory Polycythemia Vera (RPV) is a rare, chronic and incurable type of bone marrow disease. It is a myeloproliferative disorder which is characterised by excessive production of red blood cells, white blood cells and platelets. The excessive production of red cells leads to increased levels of hemoglobin and hematocrit which can result in thickening of the blood.
RPV is a type of myeloproliferative neoplasm (MPN) - an abnormal growth of cells in the bone marrow - associated with myelodysplastic changes. It is characterised by the presence of anaemia, thrombocytosis, and increased leukocyte count. The disease has no known cause, and the risk of developing it increases with age. It affects both men and women and is more common in people over the age of 60.
Symptoms of Refractory Polycythemia Vera
The symptoms of RPV can vary greatly from person to person. Common symptoms include:
- Headaches
- Dizziness
- Fatigue
- Shortness of breath
- Easy bruising
- Nosebleeds
- Ringing in the ears
- Joint pain
- Night sweats
- Itching
Diagnosing Refractory Polycythemia Vera
RPV is typically diagnosed through a combination of blood tests and medical imaging. A complete blood count (CBC) is usually performed to measure the number of red blood cells, white blood cells and platelets in the blood. Bone marrow biopsy is also used to evaluate for abnormalities in the bone marrow that is consistent with RPV. In some cases, a JAK2 mutation test may be done to check for the presence of a gene mutation which is linked to RPV. Imaging tests such as X-ray and ultrasound may also be used to evaluate the size and condition of the spleen.
Treatment of Refractory Polycythemia Vera
The primary treatment for RPV is to reduce the number of red blood cells in the blood by phlebotomy. Phlebotomy involves removing some of the blood from the body in order to reduce the number of red blood cells. Other treatments include medications such as Hydroxyurea and Anagrelide, which are used to reduce the production of red blood cells.
In some cases, Interferon may be used to reduce the number of white blood cells. Radiation therapy and/or surgery may also be recommended to reduce the size of the spleen. Patients may also be referred to a hematologist for additional treatment and monitoring.
References
- Mayo Clinic. Refractory Polycythemia Vera. Available at https://www.mayoclinic.org/diseases-conditions/refractory-polycythemia-vera/symptoms-causes/syc-20373719.
- U.S. National Library of Medicine. Polycythemia Vera. Available at https://ghr.nlm.nih.gov/condition/polycythemia-vera.