Living with PrP systemic amyloidosis
A rare inherited condition in which prion protein builds up in the body, starting in adulthood.
Understanding PrP systemic amyloidosis
It is caused by shortened versions of the prion protein gene. It usually starts around age 30 to 40. Reported features include stomach and bowel problems, and problems with the automatic nervous system and bladder.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Diarrhea
- Nausea
- Weakness and absent reflexes
- Problems with automatic body functions (autonomic)
- Bladder control problems (neurogenic bladder)
- Urinary infections
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PRNP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Amyloidosis Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Amyloidosis Foundation, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Amyloidosis Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the PRNP gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: chronic diarrhea with hereditary sensory and autonomic neuropathy; chronic diarrhea with hsan; chronic diarrhoea with hereditary sensory and autonomic neuropathy; chronic diarrhoea with hsan; prion protein systemic amyloidosis; prp (prion protein) systemic amyloidosis
Patient organizations
- Amyloidosis FoundationPrP systemic amyloidosis · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with PrP systemic amyloidosis.
Explore research for PrP systemic amyloidosis
Explore actively recruiting PrP systemic amyloidosis studies with HealthSpark.
Find actively recruiting studies for PrP systemic amyloidosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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