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Disease Profile
Polycythemia vera
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
Age of onset
All ages
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Most cases of PV are not
Symptoms
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 |
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 |
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 |
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 |
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 |
0001898 | |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] |
0001974 |
0001428 | ||
Sporadic |
No previous family history
|
0003745 |
Low platelet count
|
0001873 | |
Thrombocytosis |
Increased number of platelets in blood
|
0001894 |
Thromboembolism | 0001907 |
Cause
Diagnosis
Erythropoietin is a hormone that is released by the kidneys and helps control the creation of
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
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
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.
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
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes elimination of Ph1 negative myeloproliferative disease (MPD) including essential thrombocytosis and agnogenic myeloid metaplasia (see these terms). In patients with polyglobuly without JAK2 mutation, causes of congenital primary erythrocytosis and secondary erythrocytosis (see these terms) should be considered. In patients with PV associated with MPD in the same family, the diagnosis of familial predisposition to MPD must be considered.
Visit the Orphanet disease page for more 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
-
Leukemia and Lymphoma Society
3 International Drive, Suite 200
Rye Brook, NY 10573
Toll-free: 1-(800) 955-4572 (patients and families)
Telephone: 1-(888) 557-7177 (general)
E-mail: https://www.lls.org/content/contact-us
Website: https://www.lls.org/ -
MPN Research Foundation
180 N. Michigan Avenue
Suite 1870
Chicago, IL 60601
Toll-free: +1-855-258-1943 (Support)
Telephone: +1-312-683-7249
Fax: +1-312-332-0840
E-mail: [email protected]
Website: https://www.mpnresearchfoundation.org/
Social Networking Websites
- Visit the following Facebook groups related to Polycythemia vera:
Polycythemia Vera support group
Polycythemia Vera PV Supportive Friends
Polycythemia uk support group uk only - MPD-Support: Myeloproliferative Diseases Support and Daily E-mail Digest
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
- 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.
- Polycythemia vera. Genetics Home Reference. July, 2013; https://ghr.nlm.nih.gov/condition/polycythemia-vera.
- Polycythemia Vera, PV. Online Mendelian Inheritance in Man; November 25, 2014; https://omim.org/entry/263300.
- Erythropoietin (EPO), Serum. Mayo Clinic Mayo Medical Libraries; 2017; https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/80173.
- Nagalla S and Besa EC. Polycythemia Vera. Medscape; December 2, 2016; https://emedicine.medscape.com/article/205114-overview.
- 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.
- 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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