What are the first symptoms of polycythemia vera?
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Polycythemia vera is a myeloproliferative neoplasm of the blood-producing cells of the bone marrow that results in overproduction of all types of blood cells. Polycythemia vera is due to mutations in the Janus kinase 2 (JAK2) gene, which produces a protein (enzyme) that stimulates excessive production of blood cells. People may feel tired and weak, light-headed, or short of breath, or develop symptoms caused by blood clots. Blood tests are done for diagnosis. Phlebotomy is done to remove excess red blood cells, and some people take aspirin and sometimes other drugs. In polycythemia vera, the excess of red blood cells increases the volume of blood and makes it thicker, so that it flows less easily through small blood vessels. Polycythemia vera occurs in about 2 in every 100,000 people. The average age at which the disorder is diagnosed is 60, but it also occurs in people younger than 40. More men than women develop polycythemia vera over age 60, but more women than men develop the disease under age 40. More than 95% of people with polycythemia vera have a mutation in the JAK2 gene. This mutation causes excess blood cell production. In addition, mutations in the calreticulin gene (CALR) and other genes have been found in some people with polycythemia vera. These mutations lead to sustained activation of JAK2 kinase, the enzyme that causes excess red blood cell production. Often, people with polycythemia vera have no symptoms for years. The earliest symptoms usually are
Vision may be distorted, and people may have blind spots or see flashes of light (ocular migraine). People may have bleeding from the digestive tract or gums and more bleeding than would be expected from small cuts. A
blood clot sometimes causes the first symptoms. The increase in red blood cells in polycythemia vera makes the blood thicker and more likely to clot more than normal. A clot may form in almost any blood vessel, including those of the arms, legs (causing
deep vein thrombosis
Deep Vein Thrombosis (DVT) Deep vein thrombosis is the formation of blood clots (thrombi) in the deep veins, usually in the legs. Blood clots may form in veins if the vein is injured, a disorder causes the blood to clot... read more
Polycythemia vera may be discovered through a blood count done for another reason, even before people have any symptoms. The number of red blood cells, the level of the protein that carries oxygen in red blood cells (hemoglobin) and the percentage of red blood cells in the total blood volume (the hematocrit) are abnormally high. The number of platelets and white blood cells may also be increased. Blood levels of erythropoietin, a hormone that stimulates the bone marrow to produce red blood cells, also may be measured. Levels of erythropoietin are usually, extremely low in polycythemia vera, and they are often, but not always, normal or high in secondary erythrocytosis. People are tested for JAK 2 gene mutations to confirm the diagnosis of polycythemia vera. If those mutations are not found, doctors look for CALR and sometimes other mutations, which are also helpful in confirming the diagnosis.
Aspirin can help relieve symptoms related to the high platelet counts, such as migraines that affect vision and burning pain and redness of the hands and feet. However, aspirin has not been proven to decrease the risk of blood clots in polycythemia vera and does not benefit people who do not have symptoms People who continue to have symptoms after having phlebotomy may need other treatments. For such people, doctors may use ruxolitinib, a drug that inhibits the activity of JAK2 , or other drugs, including pegylated interferon alfa-2b, anagrelide, or hydroxyurea. The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource. CLICK HERE FOR THE PROFESSIONAL VERSION Copyright © 2022 Merck & Co., Inc., Rahway, NJ, USA and its affiliates. All rights reserved. What are two conditions that cause polycythemia?Apparent polycythaemia is often caused by being overweight, smoking, drinking too much alcohol or taking certain medicines – including diuretics (tablets for high blood pressure that make you pee more). Apparent polycythaemia may improve if the underlying cause is identified and managed.
How long does polycythemia vera take to develop?This disease develops very slowly, usually over many years. Although it can be life-threatening if you don't get any treatment, most people have a good chance of living a long life when they get the right care. SOURCES: FamilyDoctor.org: "Polycythemia Vera."
How do you know if you have polycythemia vera?What are the symptoms of polycythemia vera?. Lack of energy (fatigue) or weakness.. Headache.. Dizziness.. Shortness of breath and trouble breathing while lying down.. Vision problems, such as double vision, blurred vision, and blind spots.. Inability to concentrate.. Night sweats.. Face and becomes red and warm (flushed). How do you rule out polycythemia vera?Diagnostic Tests. Complete Blood Count. Often, the first test used to diagnose PV is a CBC. The CBC measures many parts of your blood. ... . Other Blood Tests. Blood smear. ... . Bone Marrow Tests. Bone marrow tests can show whether your bone marrow is healthy.. |
