Living with Autosomal recessive secondary polycythemia not associated with VHL gene
A rare inherited blood condition in which the body makes too many red blood cells.
Understanding Autosomal recessive secondary polycythemia not associated with VHL gene
Hemoglobin and red blood cell levels go up. This can cause a ruddy complexion, headache, dizziness, ringing in the ears, and shortness of breath on exertion. Some people have also had inflamed veins with clots and joint pain. Onset is listed as the newborn period and infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Ruddy complexion
- Headache
- Dizziness
- Ringing in the ears (tinnitus)
- Shortness of breath with exertion
- Joint pain (in some people)
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 BPGM 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
It is caused by changes in the BPGM gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive secondary erythrocytosis not associated with vhl gene; autosomal recessive secondary erythrocytosis, non-chuvash type; autosomal recessive secondary polycythemia, non-chuvash type
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 Autosomal recessive secondary polycythemia not associated with VHL gene.
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