Living with Multiple paragangliomas associated with polycythemia
A rare hormone-related condition with extra red blood cells starting early, followed later by several tumors called paragangliomas.
Understanding Multiple paragangliomas associated with polycythemia
This condition starts in childhood with polycythemia, which means a high number of red blood cells. Later, people develop several paragangliomas (tumors of nerve-related tissue). Features include high blood pressure, headaches, tiredness, nausea, and anxiety. The extra red blood cells raise the risk of stroke and blood clots in the lungs.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- High blood pressure
- Headaches
- Tiredness (fatigue)
- Nausea
- Anxiety
- High number of red blood cells (polycythemia)
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, cancer specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in EPAS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Pheo Para Alliance may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Pheo Para Alliance
- 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 Pheo Para 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
GARD lists changes in the EPAS1 gene as linked to this condition.
Also known as: multiple paraganglioma associated with erythrocytosis; multiple paraganglioma associated with polycythemia; multiple paragangliomas associated with erythrocytosis; paraganglioma-somatostatinoma-polycythemia syndrome; paraganglioma, somatostatinoma, polycythemia syndrome
Patient organizations
- Pheo Para AllianceMultiple paragangliomas associated with polycythemia · United States
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