Overview
Congenital chronic diarrhea with protein-losing enteropathy is a very rare inherited condition that affects the digestive system from birth. In this disease, the lining of the intestines does not work properly, causing ongoing (chronic) diarrhea that begins in the newborn period or early infancy. A key feature of this condition is protein-losing enteropathy, which means that proteins leak out of the intestinal wall and are lost in the stool instead of being absorbed into the body. Proteins are essential for growth, immune function, and maintaining fluid balance, so losing them leads to serious problems including swelling (edema), poor growth, failure to thrive, low levels of protein in the blood (hypoalbuminemia), and weakened immunity. Because the condition is present from birth (congenital), affected babies typically show symptoms very early in life, including watery diarrhea, poor weight gain, and generalized swelling. Without treatment, the condition can lead to severe malnutrition and life-threatening complications. Treatment is mainly supportive and focuses on managing diarrhea, replacing lost nutrients and proteins, and providing specialized nutrition. In some cases, total parenteral nutrition (nutrition given through a vein) may be needed. The underlying genetic cause may vary, and research is still ongoing to better understand the specific molecular mechanisms involved. Early diagnosis and aggressive nutritional support are critical to improving outcomes for affected children.
Also known as:
Key symptoms:
Chronic watery diarrhea starting at birth or early infancyPoor weight gain and failure to thriveSwelling of the body, especially in the legs, feet, and around the eyes (edema)Low protein levels in the bloodMalnutrition and poor growthFrequent infections due to weakened immune systemBloated or distended bellyLoss of appetiteMuscle wastingFatigue and low energyPale or frothy stoolsDehydration
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)
FDA & Trial Timeline
1 eventVeopoz: FDA approved
treatment of adult and pediatric patients 1 year of age and older with CD55-deficient protein-losing enteropathy (PLE), also known as CHAPLE disease
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Congenital chronic diarrhea with protein-losing enteropathy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital chronic diarrhea with protein-losing enteropathy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital chronic diarrhea with protein-losing enteropathy.
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
Financial Resources
1 resourcesVeopoz
Regeneron Pharmaceuticals, Inc.
Veopoz Patient Support (Regeneron Patient Services)
Travel Grants
No travel grants are currently matched to Congenital chronic diarrhea with protein-losing enteropathy.
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 genetic cause of my child's condition, and has genetic testing been completed?,What type of nutritional support does my child need, and for how long?,What are the signs of a medical emergency I should 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 for the genetic change?,What support services are available for our family, including nutritional counseling and psychological support?
Common questions about Congenital chronic diarrhea with protein-losing enteropathy
What is Congenital chronic diarrhea with protein-losing enteropathy?
Congenital chronic diarrhea with protein-losing enteropathy is a very rare inherited condition that affects the digestive system from birth. In this disease, the lining of the intestines does not work properly, causing ongoing (chronic) diarrhea that begins in the newborn period or early infancy. A key feature of this condition is protein-losing enteropathy, which means that proteins leak out of the intestinal wall and are lost in the stool instead of being absorbed into the body. Proteins are essential for growth, immune function, and maintaining fluid balance, so losing them leads to serious
How is Congenital chronic diarrhea with protein-losing enteropathy inherited?
Congenital chronic diarrhea with protein-losing enteropathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital chronic diarrhea with protein-losing enteropathy typically begin?
Typical onset of Congenital chronic diarrhea with protein-losing enteropathy is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Congenital chronic diarrhea with protein-losing enteropathy?
1 patient support program are currently tracked on UniteRare for Congenital chronic diarrhea with protein-losing enteropathy. See the treatments and support programs sections for copay assistance, eligibility, and contact details.