Disease Directory Pheochromocytoma and Paraganglioma
Endocrine

Pheochromocytoma and Paraganglioma

Also known as: PPGL, pheo, pheochromocytoma, SDH-related paraganglioma

Prevalence

2–8 per million per year

Onset

Any age; hereditary forms often in third to fifth decade

Type

Autosomal dominant (hereditary forms, ~40% of cases)

Gene

SDHA, SDHB, SDHC, SDHD, RET, VHL

About Pheochromocytoma and Paraganglioma

Pheochromocytoma and Paraganglioma are rare catecholamine-secreting tumours arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or extra-adrenal sympathetic and parasympathetic ganglia (paraganglioma). Approximately 40% of cases are caused by germline mutations in one of over 20 susceptibility genes, with SDH subunit mutations (particularly SDHB) associated with a markedly elevated risk of malignant disease and metastasis. Diagnosis relies on measurement of fractionated metanephrines in plasma or urine combined with functional imaging using 68Ga-DOTATATE or 123I-MIBG scintigraphy.

Common Clinical Features

Hypertension, often paroxysmal or refractory Headache, palpitations, and diaphoresis (classic triad) Pallor during hypertensive crises Anxiety and panic-like episodes Hyperglycaemia Weight loss Incidentally discovered adrenal or para-aortic mass Metastatic disease (lymph nodes, bone, liver, lung) in malignant PPGL

Clinical Trial Eligibility Tips

What to know before applying to Pheochromocytoma and Paraganglioma trials.

Germline genetic testing is recommended for all PPGL patients regardless of family history; the specific mutation (especially SDHB for malignant risk) affects eligibility for targeted systemic therapy trials.

Biochemical evidence of active catecholamine secretion (elevated plasma metanephrines) is required for most trials; ensure results are collected under standardised conditions (fasting, supine, off interfering medications).

For malignant PPGL trials, prior treatment lines (surgery, MIBG therapy, chemotherapy) and measurable disease by RECIST criteria on cross-sectional imaging are standard eligibility requirements.

Patient Resources

Patient Organization

Pheo Para Alliance

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Natural History Registry

ENSAT Registry

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Orphanet

European reference resource for rare diseases (ORPHA:29072)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Pheochromocytoma and Paraganglioma trials

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