The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Coronary artery disease||90%|
|Autosomal dominant inheritance||-|
|Increased megakaryocyte count||-|
|Increased red blood cell mass||-|
In rare cases, the risk to develop PCV runs in families and sometimes appears to have an autosomal dominant pattern of inheritance. This means that only one altered copy of a gene in each cell is enough to give a person an increased risk for PCV. In other words, while an increased risk to develop PCV may be inherited, the condition itself is not inherited.
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Learn more orphan products.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
The Jak/Stat Pathway: 20 Years from Discovery to Drugs
Thursday, September 22, 2011 -
Saturday, September 24, 2011
Location: NIH Natcher Center, Bethesda, MD
Description: As a scientific conference, the primary goal is the dissemination of recent data and developments in the field to intersted researchers in the field. The conference includes a scientific program and reception, which will help to foster collaboration and networking. Participants should achieve a better understanding of the state of the art research in this exciting and clinically relevant field.
Contact: Megan Laycock,(301) 594-7527Megan.firstname.lastname@example.org
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My polycythemia vera is being controlled, but I still have itching after a shower. Is there anything I can do to prevent the awful itching? See answer
I was living in a home that had a slow leak of carbon monoxide poisoning and was never sick with this until we were exposed to carbon monoxide poisoning. Is there a correlation between carbon monoxide poisoning and polycythemia vera? See answer
I was diagnosed with polycythemia vera 20 years ago, and I am JAK2 positive. My brother recently learned that his red blood cell count is very high and will now be seeing a hematologist. Is it strange that my brother may have the same condition, even though it is so rare? I researched a polycythemia vera cluster that occurred in several counties and learned that my brother and I had lived in one of them. Has anyone else researched this issue? See answer
I have polycythemia vera. Can this condition be passed on to my children? See answer