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Hereditary paraganglioma and phaeochromocytoma: the basics | CION Cancer Clinics
Hereditary paraganglioma and phaeochromocytoma is an inherited tendency to develop tumours in nerve-related tissue, from the neck down to the pelvis. A large share of these tumours are caused by a gene fault, most often in one of the SDH genes. This page explains where the tumours grow, why every family is offered testing, and what screening looks like for relatives. At CION Cancer Clinics, our oncologists plan screening and care for families with an inherited cancer syndrome, explained in plain words.
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Medically reviewed by Dr. Naresh GunduConsultant Medical Oncologist · MBBS, DNB (Internal Medicine), DM (Medical Oncology, AIIMS) · last reviewed September 2026, next review due September 2027
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On this page
- What is hereditary paraganglioma and phaeochromocytoma?
- Which parts of the body can be affected?
- What happens when a paraganglioma is found in the family?
- The words you will meet, in plain language
- How do the two commonest genes differ?
- What this page cannot tell you
- Four things families tell us, and what is actually true
- Common questions about hereditary paraganglioma
The short answer
What is hereditary paraganglioma and phaeochromocytoma?
It is an inherited tendency to develop tumours in the paraganglia, small clusters of nerve-related cells that run from the base of the skull down to the pelvis. When one of these tumours grows inside the adrenal gland it is called a phaeochromocytoma. Anywhere else, it is called a paraganglioma.
Why a gene is often involved
These tumours are rare, but a large share of them, around one in three in many studies, happen because of an inherited gene fault. That is far higher than for most tumours. It is why doctors now advise genetic testing for everyone diagnosed with one, whatever their age and whatever their family history.
What the tumours do
Many of them release adrenaline-like hormones in bursts. That can cause high blood pressure, pounding headaches, sweating and a racing heart. Most tumours do not spread, but some can, and the gene involved changes how likely that is. Found early, most can be removed or watched safely.
A gene fault here is not a diagnosis. It means you should be screened, not that a tumour is already there.Where tumours grow
Which parts of the body can be affected?
The same gene fault can produce tumours in different places, even within one family.
Inside the adrenal gland
A phaeochromocytoma sits in the adrenal gland above the kidney. It usually releases adrenaline or noradrenaline, so symptoms come in attacks.
Often shows as
- Blood pressure that is high or swings sharply
- Headaches, sweating and palpitations together
- Anxiety-like spells with no obvious trigger
In the head and neck
These grow near the large neck arteries, the ear or the nerves at the skull base. They rarely release hormones. They may show as a painless neck lump, a whooshing sound in one ear, or hearing loss.
In the chest, abdomen or pelvis
These sit along the nerve chains beside the spine and major blood vessels. Like adrenal tumours, they often release hormones. Some are found only because screening was done.
Other tumours in some families
Certain genes also raise the risk of a type of kidney cancer and of a gut tumour called GIST. Your counsellor will tell you whether your gene carries these extra risks.
Not sure whether this applies to you?
Ask an oncologistAfter a diagnosis
What happens when a paraganglioma is found in the family?
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The person with the tumour is tested
A blood test looks for a fault in a panel of genes linked to these tumours. Testing the person who has the tumour first gives the family the clearest answer.
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The result is explained
A genetic counsellor explains which gene is involved and what it means. The gene shapes where tumours tend to grow, how likely they are to spread, and whether the parent it came from matters.
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Blood relatives are offered a test
Parents, brothers, sisters and children can be tested for that exact fault. Relatives who test negative can usually stop worrying about this syndrome.
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Carriers start screening
Screening usually means a yearly blood or urine test for the hormones these tumours make, plus MRI scans every few years. For some genes it starts in childhood.
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The plan is reviewed over time
If a tumour is found, the team decides whether to remove it, treat it with targeted radiotherapy, or watch it. Guidance is updated as evidence grows, so the schedule is not fixed for life.
On your report
The words you will meet, in plain language
- Paraganglioma
- A tumour of the small nerve-related cell clusters found along the neck, chest, abdomen and pelvis.
- Phaeochromocytoma
- The same kind of tumour, growing inside the adrenal gland. Reports often shorten both together to PPGL.
- Catecholamines
- The family of hormones these tumours release, including adrenaline and noradrenaline.
- Metanephrines
- What the body breaks those hormones down into. Measuring them in blood or urine is the main screening test.
- SDHx genes
- Shorthand for SDHA, SDHB, SDHC, SDHD and SDHAF2, the genes most often involved. Each helps a cell turn food into energy.
- Parent-of-origin effect
- When risk depends on which parent passed the fault on. For SDHD and SDHAF2, tumours develop mainly when it came from the father.
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Why the gene matters
How do the two commonest genes differ?
An SDHB fault
An SDHD fault
Tumours more often in the abdomen or chest
Tumours more often in the head and neck
A higher chance that a tumour spreads
Tumours usually stay where they start
Risk applies whichever parent passed it on
Risk mainly applies when the father passed it on
Many carriers never develop a tumour
Several tumours at once are fairly common
Being straight with you
What this page cannot tell you
It cannot tell you your own risk. That depends on the exact gene, the exact variant, which parent it came from, and what has happened to relatives. A genetic counsellor puts those pieces together with your endocrinologist or oncologist, and draws up a screening plan that fits your family.
It cannot interpret your result
What your specific variant means is a question for the counsellor who ordered the test. Some variants in these genes are still classed as uncertain, and an uncertain result should not start a screening programme on its own. Tumour testing done to plan treatment is different again, and is covered under targeted therapy.
Who this does not apply to
Most people with high blood pressure, headaches or anxiety do not have one of these tumours, and do not need genetic testing. This page is for families where a paraganglioma or phaeochromocytoma has already been found, or a gene fault has been confirmed. Evidence on lifetime risk for the rarer genes still comes from small groups of families.
Commonly believed
Four things families tell us, and what is actually true
"The tumour was benign, so the gene test does not matter."
The gene result is about the rest of the family and about future tumours in the same person. A carrier can develop another tumour years later in a different place, which is why screening continues.
"Nobody else in the family had this, so it cannot be inherited."
Many carriers never develop a tumour, and some genes show their effect only when passed on by the father. A family history that looks clear is common even when a fault is present.
"Only the person who had the tumour needs check-ups."
Every blood relative who carries the fault needs a screening plan too. Finding a tumour early, before it causes symptoms, usually makes treatment simpler.
"My SDHD fault came from my mother, so my children are safe."
You may have a low risk yourself, but you can still pass it on. If a son passes it to his children, they inherit it from their father, and their risk is higher.
Questions we are asked
Common questions about hereditary paraganglioma
Is a paraganglioma a cancer?
Most paragangliomas do not spread and behave like benign tumours. Doctors now treat every one as having some potential to spread, because that cannot always be predicted at the start. Tumours linked to SDHB are more likely to spread, which is why they are watched more closely.
Why was I tested when I have no family history?
Because an inherited fault is common in these tumours, even without a family history. Guidelines advise offering a test to everyone diagnosed. The result can change your own follow-up and tells relatives whether they need screening.
Which genes are included in the test?
Usually a panel covering the SDHx genes, plus genes such as VHL, RET, NF1, MAX and TMEM127. Some of these belong to wider syndromes with other features. Your counsellor will explain which genes were tested and why.
What does screening involve each year?
Usually a blood or urine test for metanephrines, a blood pressure check and a review of symptoms. MRI scans of the neck, chest, abdomen and pelvis are added every few years. The exact schedule depends on your gene and age.
Do children need screening?
For some genes, yes, because tumours can appear in childhood. Testing children for the family's fault is often recommended so that screening starts on time, or is avoided altogether if the child does not carry it.
Can a tumour be removed if it is found?
Often, yes. Hormone-releasing tumours need careful preparation with blood pressure medicines before surgery. Some head and neck tumours are watched instead, or treated with targeted radiotherapy, to protect nearby nerves. The choice is made case by case.
Will this affect marriage or insurance?
These are fair worries in India, where there is no specific law on genetic discrimination. Many families choose to share results with a future spouse's family after counselling. Raise insurance questions with your counsellor before testing, not after.
Where should screening be done?
Ideally at a centre where endocrinologists, radiologists, surgeons and genetic counsellors work together. The blood test can sometimes be drawn nearer home, but the results and scans are best reviewed by one team who knows your family.
Your Specialists
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Medical Oncologist
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Medical Oncologist
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Medical Oncologist
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- GeneReviews (NCBI) — Hereditary Paraganglioma-Pheochromocytoma Syndromes
- MedlinePlus Genetics — Hereditary paraganglioma-pheochromocytoma
- National Cancer Institute — Pheochromocytoma and Paraganglioma Treatment (PDQ) - Patient Version
- NHS — Phaeochromocytoma
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
Keep reading
Related pages
Why every phaeochromocytoma warrants genetic testingWhy you were offered a test with no family historyBiochemical screening: metanephrines explainedThe yearly blood or urine test, made simpleImaging surveillance and which scan whenMRI, CT and PET scans, and when each is usedHead and neck paragangliomas and hearingNeck lumps, ear symptoms and treatment choices
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Has a paraganglioma been found in your family?
We can arrange genetic counselling and a screening plan for you and your relatives, with the team explaining each step. One helpline serves every CION centre.