National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Primary familial and congenital polycythemia


Other Names:
Familial erythrocytosis; Primary congenital erythrocytosis; Familial erythrocytosis type 1; Familial erythrocytosis; Primary congenital erythrocytosis; Familial erythrocytosis type 1; ECYT1; Polycythemia, primary familial and congenital; PFCP; Erythrocytosis autosomal dominant benign; Congenital polycythemia due to erythropoietin receptor mutation; Congenital erythrocytosis due to erythropoietin receptor mutation; Autosomal dominant familial erythrocytosis-1; Familial erythrocytosis 1; Primary familial polycythemia See More
Categories:
Primary familial and congenital polycythemia (PFCP) is an inherited blood disease that causes uncontrolled production of red blood cells (erythrocytes). This leads to an increased volume of red blood cells compared to the total blood volume (erythrocytosis). It may also lead to increased total blood volume or increased blood thickness (hyperviscosity), both of which can cause symptoms. The disease is present at birth, but symptoms (if they develop) may arise any time during childhood or adulthood. Possible symptoms may include headaches, dizziness, fatigue, nosebleeds, difficulty breathing after physical activity, muscle pain, a reddish complexion, and altered mental status. Some people develop blood clots that can block various blood vessels, preventing adequate blood flow (thromboembolic events). Most people have mild symptoms, but some people experience life-threatening complications such as heart attack or stroke.[1][2] The risk of thrombosis and severe complications increases with age.[2]

PFCP is diagnosed by blood tests detecting isolated erythrocytosis and low EPO levels, in the absence of spleen abnormalities and other underlying diseases that can cause erythrocytosis (such as certain blood diseases and blood cancers).[1][2]
 
PFCP is inherited in an autosomal dominant manner, but some people with PFCP have no relatives with the disease. In about 12-15% of people with PFCP, it is caused by mutations in the EPOR gene. However in most people, the genetic cause is not yet known.[1][2][3]

Most people with PFCP do not need ongoing treatment. Some people with high blood volume need to have blood drawn periodically (phlebotomy) to treat symptoms or to maintain close-to-normal hematocrit levels. Some people with PFCP need medicines to lower blood pressure (antihypertensive therapy).[1]
Last updated: 1/30/2018

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal hemoglobin 0011902
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Fatigue
Tired
Tiredness
[ more ] 		0012378
Headache
Headaches
0002315
Polycythemia
Increased red blood cells
0001901
Venous thrombosis
Blood clot in vein
0004936
Vertigo
Dizzy spell
0002321
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Arthralgia
Joint pain
0002829
Pruritus
Itching
Itchy skin
Skin itching
[ more ] 		0000989
5%-29% of people have these symptoms
Cough
Coughing
0012735
Exertional dyspnea 0002875
Thromboembolism 0001907
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Cerebral hemorrhage
Bleeding in brain
0001342
Hypertension 0000822
Increased hematocrit 0001899
Increased hemoglobin 0001900
Increased red blood cell mass 0001898
Myocardial infarction
Heart attack
0001658
Peripheral thrombosis
Peripheral blood clot
0002641
Plethora 0001050
Splenomegaly
Increased spleen size
0001744
Showing of 23 |
Last updated: 7/1/2020

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.

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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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 diagnoses include polycythemia vera (see this term), although there is no propensity to leukemic transformation or development of other myeloproliferative neoplasms in primary familial polycythemia, and secondary polycythemia (see these term). Polycythemia vera can be excluded on the basis of the absence of mutations in the JAK2 gene (9p24), and secondary polycythemia should be suspected if EPO levels are normal to high.
Visit the Orphanet disease page for more information.

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.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Primary familial and congenital polycythemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

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

  • Genetics Home Reference (GHR) contains information on Primary familial and congenital polycythemia. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 Primary familial and congenital polycythemia. Click on the link to view a sample search on this topic.

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.

  1. Bento C, McMullin MF, Percy M, Cario H. Primary Familial and Congenital Polycythemia. GeneReviews. November 10, 2016; https://www.ncbi.nlm.nih.gov/books/NBK395975/.
  2. Briere J. Primary familial polycythemia. Orphanet. July, 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042.
  3. Bocchini CA. Erythrocytosis, Familial, 1; ECYT1. Online Mendelian Inheritance in Man (OMIM). April 14, 2014; http://www.omim.org/entry/133100.