Living with Primary familial polycythemia due to EPO receptor mutation
An inherited blood condition in which the body makes too many red blood cells, which can thicken the blood and cause headaches and clots.
Understanding Primary familial polycythemia due to EPO receptor mutation
It leads to too many red blood cells (erythrocytosis) and can make the blood thicker. The disease is present at birth, but symptoms, if any, may start in childhood or adulthood. Most people have mild symptoms. Some develop blood clots, and the risk of clots increases with age. It is diagnosed by blood tests showing high red blood cells and low EPO levels.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Headaches and dizziness
- Tiredness (fatigue)
- Nosebleeds
- Shortness of breath
- Reddish complexion
- Blood clots in the veins
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Blood Clot Alliance
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
PFCP is autosomal dominant, though some people have no affected relatives. In about 12 to 15 percent of people it is caused by changes in the EPOR gene. For most people the genetic cause is not yet known.
Also known as: congenital erythrocytosis due to erythropoietin receptor mutation; congenital polycythemia due to erythropoietin receptor mutation; epor familial polycythemia; erythrocytosis, familial, 1; erythrocytosis, familial, type 1; erythrocytosis, somatic
Patient organizations
- National Blood Clot AlliancePrimary familial polycythemia due to EPO receptor mutation · United States
You are more than your diagnosis
Perspectives from people navigating life with Primary familial polycythemia due to EPO receptor mutation.
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