What's hereditary pheochromocytoma-paraganglioma?
Adrenal pheochromocytomas and extra-adrenal paragangliomas are rare neuroendocrine tumors with a distinctive biological behavior, a strong hereditary component, and a significant risk of recurrence and of spread to other parts of the body.
| Also indexed as | ORPHA:29072, MONDO:0017366 |
|---|---|
| Features mapped | 9 |
| Treatments mapped | 2 |
| Published sources | 10 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Recurrent paroxysmal headache
Headaches are among the most common symptoms, alongside a pounding heart and sweating.
Hypertension associated with pheochromocytoma
Blood pressure rises. Which pattern depends on what the tumor releases: noradrenaline-producing tumors typically bring sustained high blood pressure, through their action on alpha-1 receptors in blood vessels.
Palpitations
The heart pounds or races. Guidance is that anyone with palpitations, headaches, high blood pressure, or an abdominal tumor should be screened, with confirmation by measuring fractionated catecholamines and their breakdown products in blood and urine.
Episodic hyperhidrosis
Heavy sweating comes in episodes. The classic trio is attacks of headache, a pounding heart, and sweating, together with markedly high blood pressure.
Adrenal pheochromocytoma
A tumor forms in the inner part of one or both adrenal glands. In a pediatric series, 34 of 93 tumors were pheochromocytomas and 56 were paragangliomas, with 3 patients having both.
Paraganglioma of head and neck
Paragangliomas in the head and neck often behave differently from those elsewhere. Rather than causing hormone surges, they tend to present through mass effect, meaning symptoms from the tumor pressing on nearby structures.
Paraganglioma
Which gene is involved shapes the tumor pattern. Changes in SDHB show up as a single paraganglioma carrying a high risk of spread, while changes in VHL show up as several pheochromocytomas carrying a low risk of spread.
Catecholamine excess
These tumors release too much adrenaline and related hormones. That excess release is what produces the characteristic symptoms, and it drives the increased illness and death associated with the condition.
Metastatic progression
These tumors can spread. In one pediatric and adolescent series, spread to distant sites developed in 36 patients and the tumor came back after surgery in 21; among those carrying an SDHB change, the rate of spread reached 53.7 percent.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
tumor resection
Surgery to remove the tumor is the mainstay of curative treatment. In inherited cases affecting both adrenal glands, a cortical-sparing operation that leaves part of the adrenal behind is advised, except where SDHB is the gene involved.
Used to help with: Hereditary pheochromocytoma-paraganglioma.
“Tumor resection remains the mainstay of curative treatment, with cortical-sparing adrenalectomy advised in bilateral hereditary cases (except SDHB).”
belzutifan
Belzutifan blocks HIF-2α, the transcription factor left switched on when VHL is lost. It is approved for advanced pheochromocytoma and paraganglioma, including patients aged 12 and older.
Used to help with: Hereditary pheochromocytoma-paraganglioma.
“…approval for advanced pheochromocytoma/paraganglioma-including patients ≥ 12 years-extending impact to endocrine and pediatric…”
How to read the evidence labels
Where this comes from
This guide is built from 10 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.