Trichohepatoenteric Syndrome 2 C3281289
A condition similar to THES1, featuring intractable diarrhea from infancy, liver disease, characteristic facial appearance, and hair shaft abnormalities. Affected children typically need nutritional support and treatment for immune deficiencies and recurrent infections.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- gastrointestinal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Gastrointestinal bleeding
Abdominal pain or nausea
(gastrointestinal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Chronic diarrhea
(gastrointestinal)Recurrent vomiting
(gastrointestinal)Severe abdominal distension
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
GI disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Parenteral/Enteral Nutritional Support
Comprehensive nutritional intervention including specialized formulas, micronutrient supplementation, and may require parenteral nutrition to address severe malabsorption and prevent failure to thrive commonly seen in this syndrome.
Immunoglobulin Replacement Therapy
Regular intravenous or subcutaneous immunoglobulin infusions to address the combined immunodeficiency component, helping prevent recurrent infections typical of the condition.
Additional treatment options
Anti-diarrheal and Intestinal Motility Management
Pharmacological management of chronic diarrhea using various agents, often requiring combination approaches to reduce fluid losses and improve quality of life.
medicationHepatic Function Surveillance
Regular monitoring of liver function tests, imaging, and clinical assessment for liver involvement, which is a hallmark feature of this syndrome requiring early intervention.
monitoringProbiotic Supplementation
Use of specific probiotic strains to potentially support intestinal barrier function and microbial balance, though evidence is limited and should complement rather than replace primary therapies.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Trichohepatoenteric Syndrome 2 C3281289?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Fabre A, Roquelaure B, Bourcier K. Syndromic diarrhea: A closer look at trichohepatoenteric syndrome. Orphanet J Rare Dis. 2018.
Sivignon M, Chervaux C, Raymond J, McGuckin MA. EPCAM Mutations and Intestinal Epithelial Barrier Dysfunction in Trichohepatoenteric Syndrome. J Pediatr Gastroenterol Nutr. 2020.
Koletzko S, Husby S, Sanderson M, Hojsak I. ESPGHAN Guidelines for the Management of Rare Genetic Causes of Chronic Diarrhea. J Pediatr Gastroenterol Nutr. 2021.
Ruemmele FM, Goulet O, Mueller NJ. Advances in Understanding Syndromic Diarrhea and Immunodeficiency. Curr Opin Gastroenterol. 2022.
Medication Comparisons
Compare medications used to treat Trichohepatoenteric Syndrome 2 C3281289. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy