Primary familial polycythemia

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Congenital erythrocytosis due to erythropoietin receptor mutation | Congenital polycythemia due to erythropoietin receptor mutation | Familial erythrocytosis | PFCP | Primary congenital erythrocytosis | Primary familial and congenital polycythemia

Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

Newly diagnosed with
Primary familial polycythemia?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.