Health condition
SDH-related paraganglioma
Variants in the SDH genes (SDHB, SDHD, SDHC and others) cause hereditary paraganglioma-phaeochromocytoma syndrome - SDHB carries particular weight because its tumours are more often malignant, making lifelong surveillance essential.
Why trust this guide
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Editorial team
Written by our editorial team from the UK sources listed on each page.
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Sourced from guidance
Checked against current NHS and UK specialist society guidance at the time of review.
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Current for 2026
Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.
Key facts
The essentials at a glance.
Which gene and test confirm it, who should be tested in the family, and which specialist to see.
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Caused by variants in SDHA, SDHB, SDHC, SDHD or SDHAF2; autosomal dominant - SDHD and SDHAF2 show parent-of-origin effects (disease usually only when inherited from the father)
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SDHB: fewer tumours but higher malignancy risk (up to ~20-30%); SDHD: often multiple head and neck paragangliomas, usually benign
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Surveillance: annual plasma metanephrines plus whole-body MRI (skull base to pelvis) every 2-3 years, starting in childhood or adolescence depending on gene
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All phaeochromocytoma and paraganglioma patients should be offered genetic testing - up to 40% carry a germline variant
Understanding the condition
What it is and what happens next.
What causes it, how it is confirmed, and the testing and specialist routes available in the UK.
What it is and how it presents
Paragangliomas arise from the body's scattered neural crest tissue - the adrenal glands, the sympathetic chain, the carotid bodies and skull base - and the SDH genes are the commonest hereditary explanation. The gene names the strategy: SDHD families accumulate slow head-and-neck tumours where hearing and cranial nerves shape decisions; SDHB families face fewer but more dangerous tumours, sometimes secreting little and announcing themselves late, which is exactly what interval whole-body MRI exists to pre-empt.
Testing, surveillance and specialist care
Carriers identified through cascade testing enter gene-specific programmes - annual biochemistry, scheduled MRI without radiation, prompt functional imaging when anything appears - run by endocrine genetics services; counselling covers the unusual imprinted inheritance in SDHD families, where a variant from the mother typically sleeps a generation. NHS clinical genetics services carry some of the longest waits in the health service, often many months for a first appointment, whereas private genetic testing and a specialist review can typically be arranged within around two weeks.
Seeing a specialist
Who to see, and how quickly you can be seen.
The specialist for this condition is usually a endocrinologist at a specialist endocrine genetics service. Your GP can refer you on the NHS, or you can arrange a private consultation directly.
A quiet reminder
This guide is for information, not medical advice.
Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any emergency symptoms.
Frequently asked
Common questions about SDH-related paraganglioma.
Quick, plain-English answers to what people ask us most.
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What is SDH-related paraganglioma?
Variants in the SDH genes (SDHB, SDHD, SDHC and others) cause hereditary paraganglioma-phaeochromocytoma syndrome, a condition predisposing to tumours of the adrenal glands and related nerve tissue elsewhere in the body.
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Why does the specific SDH gene involved matter?
SDHB carries particular weight because it is associated with a higher risk of the tumours being malignant and spreading, compared with some other SDH gene variants, which affects how closely someone is monitored.
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What are the symptoms of SDH-related paraganglioma?
Symptoms depend on the tumour's location and hormone activity, and can include high blood pressure, palpitations, headache and sweating if hormone-secreting, or symptoms from pressure on nearby structures if not.
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Is SDH-related paraganglioma dangerous?
It can be, particularly with SDHB variants which carry a higher risk of malignant spread, which is why lifelong specialist surveillance and genetic counselling for family members are important.
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How is SDH-related paraganglioma managed?
Management includes regular imaging and hormone surveillance to detect tumours early, surgical removal when tumours are found, and genetic counselling and testing for family members given the hereditary nature of the condition.
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Do all family members need testing for SDH gene variants?
First-degree relatives of someone with a confirmed SDH variant are generally offered genetic testing, since identifying carriers allows targeted surveillance before tumours develop or cause symptoms.
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When should I see a specialist about SDH-related paraganglioma?
Ask for referral to a specialist endocrine genetics service if you or a family member has a paraganglioma or phaeochromocytoma diagnosis. A private endocrinologist at such a service can typically be seen within about two weeks.