Hereditary Paraganglioma Pheochromocytoma Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Hereditary Paraganglioma Pheochromocytoma Syndrome?
An oncologist usually leads care, often with an endocrinologist and a surgeon. A primary care doctor coordinates tests and referrals. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is hereditary paraganglioma pheochromocytoma syndrome?
Hereditary paraganglioma pheochromocytoma syndrome is an inherited condition. It is passed down through families in genes. People with this syndrome have a higher chance of developing certain rare tumors called paragangliomas and pheochromocytomas. These tumors grow in gland tissue that makes hormones. Hormones are chemicals that travel in the blood and control things like blood pressure. Not everyone who carries the gene change will develop tumors.
This syndrome happens when a person inherits a changed gene, usually in the SDH family. A paraganglioma grows near nerve tissue in the head, neck, chest, or belly; a pheochromocytoma grows inside the adrenal glands atop the kidneys. Some tumors are not cancer, but others can be.
Symptoms
Many of these tumors make extra adrenaline, causing symptoms that come and go. Common signs include:
- Sudden headaches
- Heavy sweating
- Pounding heartbeat
- Hard-to-control high blood pressure
- Feeling shaky or pale
Tumors in the head or neck may cause a lump or hearing changes.
Causes and who gets it
The syndrome is caused by a mutation in one of several genes that help cells use oxygen and energy. One copy, from either parent, is enough, so each child has a one in two chance of inheriting it.
How doctors diagnose it
Doctors start with blood and urine tests measuring hormone levels, especially metanephrines. High levels lead to imaging such as an MRI or CT scan. Genetic testing can confirm the syndrome, and family members may be tested too.
Treatment
Treatment depends on the tumor's size, location, and type. Surgery is most common, with medicines given beforehand to block extra hormones and keep blood pressure safe. Some tumors are simply watched; radiation or medicines are used when surgery is not possible.
When to see a doctor
Anyone with bad headaches, sweating, and a racing heartbeat should see a doctor soon. Those with a family history or an existing diagnosis should keep regular follow-up, since new tumors can appear years later.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance; a concierge doctor usually charges more and often works alongside insurance. Either can order tests, handle follow-up between specialist visits, refer to specialists, and arrange genetic testing.
Common questions
Are the tumors in this syndrome cancerous?
Not always. Many of the tumors in this syndrome are not cancer, but some are. Doctors check each tumor carefully to learn what kind it is.
Will my children inherit this syndrome?
Yes, each child of a person with the syndrome has a one in two chance of inheriting the changed gene. Genetic testing can show whether a child carries it. A genetic counselor can help families understand the results.
If I carry the gene change, will I definitely get a tumor?
No. Some people with the changed gene never develop a tumor. Others develop one or more tumors over their lifetime, and regular checkups help find them early.
Can new tumors appear after treatment?
They can. New tumors may appear years after the first one is treated. This is why long-term follow-up with hormone tests and imaging is common.
Sources
- MedlinePlus Genetics - Hereditary paraganglioma-pheochromocytoma
- NIH Genetic and Rare Diseases Information Center - Hereditary pheochromocytoma and paraganglioma
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
