Living with Pheochromocytoma/paraganglioma syndrome 2
An inherited condition caused by changes in the SDHAF2 gene that leads to paraganglioma tumors.
Understanding Pheochromocytoma/paraganglioma syndrome 2
The SDHAF2 gene provides instructions for a protein needed for another protein, SDHA, to work properly. When SDHA doesn't work, paragangliomas can develop. These are rare tumors near the carotid artery, along nerve pathways in the head and neck, and in other parts of the body.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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
Changes in the SDHAF2 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: glomus tumors, familial, 2; paraganglioma caused by mutation in sdhaf2; paragangliomas 2; paragangliomas type 2; sdhaf2 paraganglioma; sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome
Patient organizations
- Pheo Para AlliancePheochromocytoma/paraganglioma syndrome 2 · United States
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Perspectives from people navigating life with Pheochromocytoma/paraganglioma syndrome 2.
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