Living with Trichohepatoenteric syndrome
A genetic condition that affects the hair, liver, and intestines, with long-lasting diarrhea starting in early infancy.
Understanding Trichohepatoenteric syndrome
Within the first weeks of life, babies develop watery diarrhea many times a day. Many have trouble gaining weight even with nutrition given through a vein. Hair is wooly, brittle, patchy, and easily pulled out. Other features can include liver disease, skin differences, coarse facial features, immune problems that bring infections, and sometimes heart differences. Mild intellectual disability has been reported in at least half of children.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Long-lasting watery diarrhea
- Trouble gaining weight and short stature
- Woolly, brittle hair
- Liver problems, including scarring (fibrosis)
- Weaker immune system (immunodeficiency)
- Mild intellectual disability
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 autoimmune and inflammatory disease specialists, digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency Foundation
- 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
GARD says changes in genes (variants) cause this condition and that it is autosomal recessive, so a child inherits a changed copy of a gene from each parent. It doesn't name a specific gene.
Also known as: fatal infantile diarrhea with trichorrhexis nodosa; intractable diarrhea with phenotypic anomalies; phenotypic diarrhea; phenotypic diarrhea of infancy; phenotypic diarrhoea; sd/the
Patient organizations
- Immune Deficiency FoundationTrichohepatoenteric syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Trichohepatoenteric syndrome.
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