Overview
Hereditary pheochromocytoma-paraganglioma (also called hereditary PPGL or familial pheochromocytoma-paraganglioma syndrome) is a rare inherited condition that causes tumors to grow in and around certain nerve tissues. Pheochromocytomas are tumors that form in the adrenal glands, which sit on top of the kidneys. Paragangliomas are similar tumors that grow in other parts of the body, such as the neck, chest, or abdomen. These tumors are usually not cancerous, but they can cause serious problems because they release hormones called catecholamines — including adrenaline — into the bloodstream. When these hormones are released in large amounts, they can cause sudden spikes in blood pressure, a racing heart, heavy sweating, and severe headaches. Over time, uncontrolled high blood pressure can damage the heart and other organs. Some people have no symptoms at all and are only diagnosed because a family member was found to have the condition. Treatment usually involves surgery to remove the tumor, which can be curative in many cases. Medications are used before surgery to control blood pressure and reduce the risk of dangerous complications. Because this condition is hereditary, family members of someone diagnosed should also be tested. Long-term follow-up is important since new tumors can develop over time, and a small number of tumors can spread to other parts of the body.
Also known as:
Key symptoms:
Sudden, severe headachesVery high blood pressure, sometimes in sudden spikesRapid or pounding heartbeat (palpitations)Heavy sweating, often without a clear reasonFeeling anxious or having a sense of panicPale skinTrembling or shakingNausea or vomitingFeeling lightheaded or dizzyUnexplained weight lossFeeling very tired or weakA lump or mass in the neck or abdomen that can be felt or seen on imaging
Clinical phenotype terms (41)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsCentral Hospital, Nancy, France
National Cancer Institute (NCI) — PHASE1
Sun Yat-sen University — PHASE2
University of Pennsylvania — NA
Radboud University Medical Center
University College, London — PHASE2
Rigshospitalet, Denmark
Seoul National University Hospital — PHASE4
Hospices Civils de Lyon
National Cancer Institute (NCI) — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Hereditary pheochromocytoma-paraganglioma.
10 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hereditary pheochromocytoma-paraganglioma.
Community
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Start the conversation →Latest news about Hereditary pheochromocytoma-paraganglioma
Disease timeline:
New recruiting trial: Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma
A new clinical trial is recruiting patients for Hereditary pheochromocytoma-paraganglioma
New recruiting trial: Hereditary Pheochromocytoma Assessment of Tumour Immunologies
A new clinical trial is recruiting patients for Hereditary pheochromocytoma-paraganglioma
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which gene mutation do I have, and what does that mean for my risk of developing new tumors or malignant disease?,How often do I need surveillance testing, and what does that involve?,Which medications, supplements, or foods should I avoid because they could trigger a dangerous episode?,Should my children, siblings, or parents be tested, and how do I arrange that?,What are the warning signs of a hypertensive crisis, and what should I do if one happens?,Am I a candidate for surgery, and what preparation is needed beforehand?,Are there clinical trials or specialized centers I should consider for my care?
Common questions about Hereditary pheochromocytoma-paraganglioma
What is Hereditary pheochromocytoma-paraganglioma?
Hereditary pheochromocytoma-paraganglioma (also called hereditary PPGL or familial pheochromocytoma-paraganglioma syndrome) is a rare inherited condition that causes tumors to grow in and around certain nerve tissues. Pheochromocytomas are tumors that form in the adrenal glands, which sit on top of the kidneys. Paragangliomas are similar tumors that grow in other parts of the body, such as the neck, chest, or abdomen. These tumors are usually not cancerous, but they can cause serious problems because they release hormones called catecholamines — including adrenaline — into the bloodstream. Wh
How is Hereditary pheochromocytoma-paraganglioma inherited?
Hereditary pheochromocytoma-paraganglioma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Hereditary pheochromocytoma-paraganglioma?
Yes — 10 recruiting clinical trials are currently listed for Hereditary pheochromocytoma-paraganglioma on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Hereditary pheochromocytoma-paraganglioma?
20 specialists and care centers treating Hereditary pheochromocytoma-paraganglioma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.