Living with Chuvash polycythemia
A rare genetic blood condition with too many red blood cells, which can cause headaches, dizziness, and breathlessness.
Understanding Chuvash polycythemia
Hemoglobin, hematocrit, and erythropoietin levels in the blood are higher than usual. GARD says people have an increased risk of bleeding and blood clots. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD says they usually include:
- Headache
- Dizziness
- Shortness of breath
- Flushed, reddish skin (plethora)
- High blood pressure in the lungs
- Slow weight gain (failure to thrive)
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.
- 3Consider genetic testing
Changes in VHL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 rare disease patient organizations for support
- 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
GARD says changes in the VHL gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive benign erythrocytosis; chuvash erythrocytosis; chuvash erythromatosis; chuvash type polycythemia; erythrocytosis, familial, type 2; familial erythrocytosis 2
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Chuvash polycythemia.
Explore research for Chuvash polycythemia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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