Living with Pheochromocytoma/paraganglioma syndrome 1
An inherited condition with tumors called paragangliomas in the head, neck, or adrenal glands.
Understanding Pheochromocytoma/paraganglioma syndrome 1
Paragangliomas can occur anywhere in the body. They come from cells called paraganglia. Some are in the head and neck, and others are in the adrenal glands (pheochromocytomas) or elsewhere. A person may have one type or both. Several different genes can cause paragangliomas.
Signs & symptoms
GARD lists these among the most common features:
- Tumors in the adrenal glands (pheochromocytoma)
- Tumors outside the adrenal glands
- Tumors in the head and neck
- Hearing loss from the middle ear (less common)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Pheo Para Alliance may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 says changes in different genes cause paragangliomas. It lists this condition as autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: glomus tumors familial 1; paraganglioma - glomus jugulare; paraganglioma caused by mutation in sdhd; paragangliomas 1; paragangliomas 1, with or without deafness; paragangliomas familial 1
Patient organizations
- Pheo Para AlliancePheochromocytoma/paraganglioma syndrome 1 · United States
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