Overview
Multiple paragangliomas associated with polycythemia is a rare condition in which a person develops tumors called paragangliomas along with an abnormally high number of red blood cells (polycythemia). Paragangliomas are slow-growing tumors that arise from nerve tissue, often found in the head, neck, or along the spine near the adrenal glands. When these tumors occur alongside polycythemia, the combination is sometimes called Pacak-Zhuang syndrome. The condition is caused by changes in genes that sense oxygen levels in the body, particularly the genes EPAS1 (also known as HIF2A), and sometimes PHD1 or PHD2. These genetic changes trick the body into acting as if oxygen levels are low, which drives both tumor growth and overproduction of red blood cells. Symptoms can include headaches, dizziness, high blood pressure, a flushed or reddish complexion, and episodes of sweating or rapid heartbeat caused by excess hormones released by the tumors. The high red blood cell count thickens the blood, raising the risk of blood clots, stroke, and heart problems. Some patients also develop somatostatinomas (tumors of the pancreas or duodenum). Treatment involves managing both the paragangliomas and the polycythemia. Surgery is often used to remove accessible tumors. Polycythemia may be managed with regular blood removal (phlebotomy) to keep red blood cell levels safe. Medications to control blood pressure and hormone-related symptoms are also used. Because this is a lifelong condition, ongoing monitoring by a team of specialists is essential. Research into targeted therapies that block the abnormal oxygen-sensing pathway is ongoing and may offer new options in the future.
Also known as:
Key symptoms:
High red blood cell count (polycythemia)Tumors along nerve pathways (paragangliomas)High blood pressureHeadachesDizziness or lightheadednessFlushed or reddish skin colorEpisodes of sweatingRapid or pounding heartbeatFatigueBlurred visionRinging in the earsBlood clotsAbdominal pain from possible duodenal tumorsShortness of breath
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
1 availableHyftor
treatment of facial angiofibroma associated with tuberous sclerosis in adults and pediatric patients 6 years of age and older
Clinical Trials
View all trials with filters →No actively recruiting trials found for Multiple paragangliomas associated with polycythemia at this time.
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Specialists
View all specialists →No specialists are currently listed for Multiple paragangliomas associated with polycythemia.
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 Multiple paragangliomas associated with polycythemia.
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1 articlesCaregiver 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.What specific genetic change is causing my condition, and is it inherited or somatic?,How often will I need phlebotomy, and what is my target red blood cell level?,How frequently should I have imaging scans to check for new or growing tumors?,Are any of my tumors producing excess hormones, and how will that be managed?,Should my family members be tested for this condition?,Am I eligible for any clinical trials, including those testing HIF-2α inhibitors?,What emergency symptoms should I watch for, and what should I do if they occur?
Common questions about Multiple paragangliomas associated with polycythemia
What is Multiple paragangliomas associated with polycythemia?
Multiple paragangliomas associated with polycythemia is a rare condition in which a person develops tumors called paragangliomas along with an abnormally high number of red blood cells (polycythemia). Paragangliomas are slow-growing tumors that arise from nerve tissue, often found in the head, neck, or along the spine near the adrenal glands. When these tumors occur alongside polycythemia, the combination is sometimes called Pacak-Zhuang syndrome. The condition is caused by changes in genes that sense oxygen levels in the body, particularly the genes EPAS1 (also known as HIF2A), and sometimes
What treatment and support options exist for Multiple paragangliomas associated with polycythemia?
1 patient support program are currently tracked on UniteRare for Multiple paragangliomas associated with polycythemia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.