Overview
Orphanet code 506216 refers to a rare and serious condition affecting the intestines (bowel) that is severe enough to require consideration of a bowel transplant, also called intestinal transplantation. This category covers conditions where the small intestine can no longer absorb enough nutrients and fluids to keep a person alive — a state known as intestinal failure. The most common underlying causes include short bowel syndrome (where a large portion of the small intestine is missing or has been surgically removed), chronic intestinal pseudo-obstruction (where the bowel stops moving food through even though there is no physical blockage), and microvillus inclusion disease or other severe congenital enteropathies (rare inherited conditions affecting the lining of the gut from birth). People with this condition cannot absorb enough calories, protein, vitamins, and fluids through eating alone. Most rely on intravenous (IV) nutrition delivered directly into the bloodstream, called total parenteral nutrition (TPN) or home parenteral nutrition (HPN). Over time, TPN can cause serious complications including liver damage, repeated bloodstream infections, and loss of usable veins. When these complications become life-threatening or TPN is no longer possible, a bowel transplant may be the only remaining option. Symptoms vary depending on the underlying cause but often include severe diarrhea, poor growth or weight loss, bloating, vomiting, and malnutrition. Treatment is complex and requires a specialized team. Bowel transplantation remains a high-risk procedure with significant challenges around organ rejection, but it can be life-saving for carefully selected patients.
Key symptoms:
Severe, ongoing diarrhea that does not improvePoor weight gain or significant weight lossMalnutrition and vitamin deficienciesBloating and abdominal painNausea and vomitingDependence on IV nutrition (TPN) to surviveRepeated bloodstream infections (sepsis) from IV linesLiver damage or liver failure related to long-term IV nutritionDehydrationFatigue and low energyDelayed growth and development in childrenLoss of usable veins for IV access over time
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare disorder potentially indicated for bowel transplant.
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Specialists
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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 Rare disorder potentially indicated for bowel transplant.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 is the specific underlying cause of my (or my child's) intestinal failure, and has genetic testing been done?,Am I a candidate for intestinal rehabilitation, and could medications like teduglutide help reduce my dependence on TPN?,At what point would you recommend referral to a bowel transplant center, and what are the criteria?,What are the biggest risks I face from staying on long-term TPN, and how can we monitor for them?,How do I recognize the signs of a central line infection, and what should I do if I suspect one?,Are there clinical trials or research studies I should know about for my condition?,What support services — nutritional, psychological, social — are available to help me and my family cope?
Common questions about Rare disorder potentially indicated for bowel transplant
What is Rare disorder potentially indicated for bowel transplant?
Orphanet code 506216 refers to a rare and serious condition affecting the intestines (bowel) that is severe enough to require consideration of a bowel transplant, also called intestinal transplantation. This category covers conditions where the small intestine can no longer absorb enough nutrients and fluids to keep a person alive — a state known as intestinal failure. The most common underlying causes include short bowel syndrome (where a large portion of the small intestine is missing or has been surgically removed), chronic intestinal pseudo-obstruction (where the bowel stops moving food th