Living with Congenital diarrhea 7 with exudative enteropathy
A rare inherited condition with long-lasting watery diarrhea and protein loss through the gut, starting in infancy.
Understanding Congenital diarrhea 7 with exudative enteropathy
The diarrhea is not caused by infection and is not bloody. It comes with protein loss through the gut, causing low blood protein and antibodies. Babies typically have severe diarrhea that is hard to treat, slow weight gain, repeated infections and swelling. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic watery diarrhea
- Protein loss through the gut
- Slow weight gain (failure to thrive)
- Vomiting and belly cramps
- Swelling (edema)
- Repeated 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 digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DGAT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the DGAT1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: congenital chronic diarrhea with exudative enteropathy; congenital chronic diarrhea with protein-losing enteropathy; congenital chronic diarrhoea with exudative enteropathy; congenital chronic diarrhoea with protein-losing enteropathy; congenital diarrhea caused by mutation in dgat1; congenital diarrhoea caused by mutation in dgat1
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital diarrhea 7 with exudative enteropathy.
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