Understanding Polycythemia Vera: Symptoms, Diagnosis and Treatment

Polycythemia vera is a rare blood cancer in which all blood cells, including red blood cells, white blood cells, and platelets, proliferate excessively due to a mutated gene of stem cells in the bone marrow. Mutations in the JAK2 gene are found in more than 95% of patients, and this mutation is known to cause excessive production of blood cells.

The prevalence rate is about 2 out of 100,000 population, and it is investigated that about 4,000 patients have been diagnosed in Korea. The average age of diagnosis of the disease is 60 years, but it also occurs in people under 40 years of age. It is reported more in men than in women over the age of 60, and has a higher incidence rate in women than in men under the age of 40.

Blood tests and genetic tests are mainly used for diagnosis. Non-specific symptoms such as headache, dizziness, shortness of breath, night sweats, and itching after showering or bathing may be seen, but abnormally high red blood cell counts, hemoglobin levels, and the percentage of red blood cells in the total blood volume (blood cell volume) are observed in blood tests. In the case of genetic testing, the JAK2 gene mutation is confirmed.

Treatment aims to reduce the number of red blood cells, and performs phlebotomy to remove blood from the body or drug treatment to relieve complications and symptoms. As drugs, ruxolitinib, pegylated interferon alpha-2b, anagrelide, hydroxyurea, etc., which inhibit the activity of JAK2, are used. Most patients survive long-term with treatment, but in a small number of patients, myelofibrosis or acute leukemia may occur.