Overview
PrP systemic amyloidosis is an extremely rare disease caused by mutations in the PRNP gene, which provides instructions for making prion protein. Unlike the more well-known prion diseases that mainly affect the brain (such as Creutzfeldt-Jakob disease), this condition causes abnormal prion protein to build up as amyloid deposits throughout the body rather than primarily in the nervous system. Amyloid is a type of misfolded protein that clumps together and damages organs over time. In PrP systemic amyloidosis, amyloid deposits can accumulate in multiple organs including the gastrointestinal tract, kidneys, nerves, and other tissues. This leads to symptoms such as chronic diarrhea, peripheral neuropathy (numbness, tingling, or pain in the hands and feet), autonomic dysfunction (problems with automatic body functions like blood pressure control and digestion), and progressive organ damage. Some patients also develop kidney problems or bladder dysfunction. This condition is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to cause the disease. It typically appears in adulthood. Because it is so rare, there is no established cure. Treatment is mainly supportive, focusing on managing symptoms and slowing organ damage. Diagnosis can be challenging because the disease mimics other forms of systemic amyloidosis, and specialized testing is needed to identify prion protein as the amyloid type.
Also known as:
Key symptoms:
Chronic diarrheaNumbness or tingling in hands and feet (peripheral neuropathy)Unexplained weight lossProblems with blood pressure regulationBladder dysfunctionNausea and vomitingKidney problems or protein in the urineAutonomic dysfunction (problems with sweating, digestion, or heart rate)Fatigue and weaknessAbdominal pain or bloatingDifficulty with balance or walkingSwelling in the legs
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventNORTHERA: FDA approved
Treatment of orthostatic dizziness, lightheadedness, or the "feeling that you are about to black out" in adult patients with symptomatic neurogenic orthostatic hypotension caused by primary autonomic failure (Parkinson's disease, multiple system atrophy, and pure autonomic failure), dopamine beta-hydroxylase deficiency, and non-diabetic autonomic neuropathy.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableMyobloc
Treatment of chronic sialorrhea in adults
Clinical Trials
View all trials with filters →No actively recruiting trials found for PrP systemic amyloidosis at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for PrP systemic amyloidosis.
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 PrP systemic amyloidosis.
Community
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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.What specific PRNP mutation do I have, and what does it mean for my disease course?,Which organs are currently affected, and how will you monitor them over time?,Are there any clinical trials or experimental treatments I might be eligible for?,Should my family members be tested for this genetic mutation?,What can I do to manage my diarrhea and maintain my weight?,How often should I have follow-up testing for kidney function and nerve damage?,What emergency symptoms should I watch for, and when should I go to the hospital?
Common questions about PrP systemic amyloidosis
What is PrP systemic amyloidosis?
PrP systemic amyloidosis is an extremely rare disease caused by mutations in the PRNP gene, which provides instructions for making prion protein. Unlike the more well-known prion diseases that mainly affect the brain (such as Creutzfeldt-Jakob disease), this condition causes abnormal prion protein to build up as amyloid deposits throughout the body rather than primarily in the nervous system. Amyloid is a type of misfolded protein that clumps together and damages organs over time. In PrP systemic amyloidosis, amyloid deposits can accumulate in multiple organs including the gastrointestinal tr
How is PrP systemic amyloidosis inherited?
PrP systemic amyloidosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PrP systemic amyloidosis typically begin?
Typical onset of PrP systemic amyloidosis is adult. Age of onset can vary across affected individuals.
What treatment and support options exist for PrP systemic amyloidosis?
1 patient support program are currently tracked on UniteRare for PrP systemic amyloidosis. See the treatments and support programs sections for copay assistance, eligibility, and contact details.