Overview
Chronic diarrhea with villous atrophy is a very rare inherited condition that primarily affects the lining of the small intestine. In a healthy gut, the inner surface of the small intestine is covered with tiny finger-like projections called villi, which help absorb nutrients from food. In this condition, these villi become flattened or destroyed (a process called villous atrophy), which severely reduces the body's ability to absorb nutrients. This leads to persistent, watery diarrhea that begins very early in life, usually in infancy. Because the intestine cannot properly absorb nutrients, affected infants often experience failure to thrive, meaning they do not gain weight or grow as expected. Dehydration and electrolyte imbalances can also occur due to the ongoing fluid loss from diarrhea. The condition can be life-threatening if not managed promptly and aggressively. Treatment is mainly supportive, focusing on maintaining nutrition and hydration. Many patients require total parenteral nutrition (TPN), which delivers nutrients directly into the bloodstream through an intravenous line, bypassing the damaged intestine. Some patients may eventually be considered for intestinal transplantation. The exact genetic cause is not fully understood in all cases, and research is ongoing to better define the underlying mechanisms and develop more targeted therapies.
Key symptoms:
Persistent watery diarrhea starting in infancyFailure to thrive and poor weight gainDehydrationBloating and abdominal distensionMalnutritionElectrolyte imbalancesMuscle weakness due to poor nutritionIrritability and fussiness in infantsPale or foul-smelling stoolsDelayed growth and short statureFatigue and low energy
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Chronic diarrhea with villous atrophy.
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Specialists
View all specialists →No specialists are currently listed for Chronic diarrhea with villous atrophy.
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 Chronic diarrhea with villous atrophy.
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 is the specific cause of my child's villous atrophy, and has genetic testing been done?,How long will my child need total parenteral nutrition, and what are the risks?,Is intestinal transplantation an option for my child, and when should we consider it?,What signs of complications should I watch for at home?,Are there any clinical trials or new treatments being studied for this condition?,How will this condition affect my child's growth and development over time?,Should other family members be tested, and what is the chance of having another affected child?
Common questions about Chronic diarrhea with villous atrophy
What is Chronic diarrhea with villous atrophy?
Chronic diarrhea with villous atrophy is a very rare inherited condition that primarily affects the lining of the small intestine. In a healthy gut, the inner surface of the small intestine is covered with tiny finger-like projections called villi, which help absorb nutrients from food. In this condition, these villi become flattened or destroyed (a process called villous atrophy), which severely reduces the body's ability to absorb nutrients. This leads to persistent, watery diarrhea that begins very early in life, usually in infancy. Because the intestine cannot properly absorb nutrients, a
How is Chronic diarrhea with villous atrophy inherited?
Chronic diarrhea with villous atrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Chronic diarrhea with villous atrophy typically begin?
Typical onset of Chronic diarrhea with villous atrophy is neonatal. Age of onset can vary across affected individuals.