Living with Congenital microvillous atrophy
A rare gut condition causing chronic watery diarrhea from the first days of life and trouble absorbing nutrients.
Understanding Congenital microvillous atrophy
The gut cannot absorb nutrients well, which leads to malnutrition and dehydration. Babies may have trouble gaining weight and growing, developmental delay, and liver, kidney, and bone problems. Some develop cholestasis (reduced bile flow). Lifelong nutrition through a vein (parenteral nutrition) is usually needed. A variant type has milder diarrhea and often does not need full-time parenteral nutrition.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic watery diarrhea
- Dehydration
- Swollen belly (abdominal bloating)
- Global developmental delay
- Itching (pruritus)
- Kidney problems, including calcium in the kidneys
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 MYO5B 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 TKO Strong
- 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
It is caused by changes in the MYO5B gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital familial protracted diarrhea with enterocyte brush-border abnormalities; congenital familial protracted diarrhoea with enterocyte brush-border abnormalities; congenital microvillus atrophy; davidson disease; diar2; diarrhea 2 with microvillus atrophy
Patient organizations
- TKO StrongCongenital microvillous atrophy · United States
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Perspectives from people navigating life with Congenital microvillous atrophy.
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