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Disease Profile

Polycythemia vera

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

All ages

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ICD-10

D45

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Polycythemia rubra vera; PRV; PV;

Categories

Blood Diseases; Rare Cancers

Summary

Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream (erythrocytosis). Affected people may also have excess white blood cells and platelets. Conditions where the body makes too many of these cells are known as myeloproliferative neoplasms.[1] These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries and veins. If a blood clot occurs in the veins deep in the arms and the legs, it is known as deep vein thrombosis (DVT). A DVT can sometimes travel through the blood stream to the lungs, which can cause a pulmonary embolism and is very dangerous. A blood clot could also travel to the heart or brain, which leads to an increased risk for heart attack or stroke.

Most cases of PV are not inherited and are acquired during a person’s lifetime. PV is more common as a person ages, and it typically presents for the first time around 60-years-old. PV occurs more frequently in men than it does in women. The condition has been associated with mutations in the JAK2 and TET2 genes. In rare cases, the risk for PV runs in families and may be inherited in an autosomal dominant manner.[2]

Symptoms

Polycythemia vera is characterized by having too many red blood cells in the bloodstream. This can cause problems because the blood is thicker than it would normally be, which causes an increased risk for blood clots that can cause serious health problems such as heart attack or stroke. Other symptoms of PV include headaches, dizziness, ringing in the ears (tinnitus), and impaired vision.[2] The skin may also become itchy (pruritus) or reddened (erythema). Affected individuals may also have an enlarged spleen (splenomegaly) and an increased risk for heart disease, and there is a small chance that PV may progress to cause leukemia (cancer of the blood).[1] 

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Acute leukemia
0002488
Angina pectoris
0001681
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed

[ more ]

0000421
Gingival bleeding
Bleeding gums
0000225
Headache
Headaches
0002315
Hepatomegaly
Enlarged liver
0002240
Hypertension
0000822
Myelodysplasia
0002863
Myelofibrosis
0011974
Splenomegaly
Increased spleen size
0001744
Tinnitus
Ringing in ears
Ringing in the ears

[ more ]

0000360
Vertigo
Dizzy spell
0002321
Weight loss
0001824
30%-79% of people have these symptoms
Arthralgia
Joint pain
0002829
Fatigue
Tired
Tiredness

[ more ]

0012378
Respiratory insufficiency
Respiratory impairment
0002093
5%-29% of people have these symptoms
Arterial thrombosis
Blood clot in artery
0004420
Budd-Chiari syndrome
0002639
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Intermittent claudication
0004417
Portal hypertension
0001409
Portal vein thrombosis
Blood clot in portal vein
0030242
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Pulmonary embolism
Blood clot in artery of lung
0002204
Stroke
0001297
Percent of people who have these symptoms is not available through HPO
Abnormal thrombosis
Abnormal blood clot
0001977
Autosomal dominant inheritance
0000006
Cerebral hemorrhage
Bleeding in brain
0001342
Cerebral ischemia
Disruption of blood oxygen supply to brain
0002637
Increased hematocrit
0001899
Increased hemoglobin
0001900
Increased megakaryocyte count
0005513
Increased red blood cell mass
0001898
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

0001974
Somatic mutation
0001428
Sporadic
No previous family history
0003745
Thrombocytopenia
Low platelet count
0001873
Thrombocytosis
Increased number of platelets in blood
0001894
Thromboembolism
0001907

Cause

Polycythemia vera is frequently caused by mutations (changes) affecting the JAK2 gene, and less frequently by mutations affecting the TET2 gene. JAK2 is known to provide the body with instructions to produce blood cells. When there is a mutation in this gene, the gene is constantly turned on, and the body therefore produces too many red blood cells.[2] Having too many red blood cells cause the blood to be thicker than normal so it cannot travel as efficiently through the bloodstream. This causes an increased risk for blood clots, and it can cause the skin to be reddened. It also can mean that the organs of the body are not getting enough oxygen due to reduced blood flow, so the organs such as the spleen may swell resulting in splenomegaly.

Diagnosis

Polycythemia vera is diagnosed by testing the blood for levels of a hormone called erythropoietin as well as testing the blood for mutations in JAK2 or TET2.[1]

Erythropoietin is a hormone that is released by the kidneys and helps control the creation of red blood cells. When the body senses that red blood cell levels are too high, as they are in people who have PV, the body secretes less erythropoietin in an effort to reduce the number of red blood cells. However, because people with PV have mutations that cause red blood cells to be created constantly, lower levels of erythropoietin do not control the number of red blood cells. Because people with PV have consistently high number of red blood cells, the body tries to control this problem by secreting low levels of erythropoietin.[4]

If low levels of erythropoietin are found in the blood as well as mutations in either JAK2 or TET2, an individual can be diagnosed with polycythemia vera. If mutations are not found in the red blood cells but the doctors still suspect a diagnosis of polycythemia vera, a bone marrow biopsy may be done to look for mutations in the hematopoietic blood cells which are located in the bone marrow.[1]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    The goal of treatment for polycythemia vera is to decrease the risk for developing deep vein thrombosis. This risk is about 20% for individuals who are above 60 years old or have a history of deep vein thrombosis. The risk can be reduced by keeping the hematocrit, which is the ratio of red blood cells to the amount of total blood, below 45%. In order to decrease the number of blood cells, doctors may recommend phlebotomy, which is the process of removing blood from the veins.[5] A person with polycythemia vera may also be told to take low-dose aspirin daily, which has been shown to help reduce blood thickening. If these treatments do not work to reduce the number of red blood cells, a therapy called hydroxyurea may be used to reduce the number of blood cells in the bone marrow.[1] In some cases, a bone marrow transplant may be necessary to reduce the number of blood cells in the bone marrow.[3]

    There are several treatments for the itching (pruritus) related to polycythemia vera. No single treatment has been found to be effective for all individuals. For mild cases, treatment may include avoiding triggers of itching and dry skin such as hot environment or bathing water.[1] Several other treatments are available for more severe itching or itching that does not respond to initial treatments. Interferon-alpha is a medication that has been effective for reducing itching in a majority of individuals with PV who received this therapy, but there may be some side-effects to this treatment.[6] Selective serotonin reuptake inhibitors, typically used to treat depression, may also reduce itching for some individuals with PV.[7] If severe symptoms continue, medications targeting the causative gene, such as JAK inhibitors, may be helpful in reducing symptoms.[1]

    Management Guidelines

    • The NORD Physician Guide for Polycythemia vera was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.

      FDA-Approved Treatments

      The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

      • Ruxolitinib Phosphate(Brand name: Jakafi) Manufactured by Incyte Corporation
        FDA-approved indication: Treatment of patients with intermediate or high-risk myelofibrosis, including primary myelofibrosis, post-polycythemia vera myelofibrosis and post-essential thrombocythemia myelofibrosis. Treatment of patients with polycythemia vera who have had an inadequate response to or are intolerant of hydroxyurea.
        National Library of Medicine Drug Information Portal
        Medline Plus Health Information

      Organizations

      Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

      Organizations Supporting this Disease

        Social Networking Websites

          Learn more

          These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

          Where to Start

          • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
          • Genetics Home Reference (GHR) contains information on Polycythemia vera. This website is maintained by the National Library of Medicine.
          • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
          • The MPN Research Foundation provides online information on myeloproliferative disorders (MPD). Click on the link to view the resource.
          • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
          • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

            In-Depth Information

            • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
              Polycythemia Vera (Hematology)
              Pediatric Polycythemia Vera
            • The Merck Manual for health care professionals provides information on Polycythemia vera.
            • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
            • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
            • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
            • PubMed is a searchable database of medical literature and lists journal articles that discuss Polycythemia vera. Click on the link to view a sample search on this topic.

              References

              1. Tefferi A. Polycythemia vera and essential thrombocythemia: 2012 update on diagnosis, risk stratification, and management. American Journal of Hematology. 2012; 87(3):285-293. https://www.ncbi.nlm.nih.gov/pubmed/22331582.
              2. Polycythemia vera. Genetics Home Reference. July, 2013; https://ghr.nlm.nih.gov/condition/polycythemia-vera.
              3. Polycythemia Vera, PV. Online Mendelian Inheritance in Man; November 25, 2014; https://omim.org/entry/263300.
              4. Erythropoietin (EPO), Serum. Mayo Clinic Mayo Medical Libraries; 2017; https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/80173.
              5. Nagalla S and Besa EC. Polycythemia Vera. Medscape; December 2, 2016; https://emedicine.medscape.com/article/205114-overview.
              6. Saini KS, Patnaik MM, Tefferi A. Polycythemia vera-associated pruritus and its management. European Journal of Clinical Investigation. 2010; 40(9):828-834. https://www.ncbi.nlm.nih.gov/pubmed/20597963. Accessed 9/7/2014.
              7. Tefferi A, Fonseca R. Selective serotonin reuptake inhibitors are effective in the treatment of polycythemia vera-associated pruritus. Blood. 2002; 99(7):2627. https://www.ncbi.nlm.nih.gov/pubmed/11926187. Accessed 9/7/2014.

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