From the Research
Tricho-hepato-enteric syndrome (THE syndrome) is a rare genetic disorder characterized by intractable diarrhea, hair abnormalities, liver disease, and developmental delays, and its management focuses on symptom control and supportive care, as reported in a recent case study 1.
Diagnosis and Treatment
The diagnosis of THE syndrome is based on genetic testing, which confirms the presence of mutations in genes involved in RNA processing, such as TTC37 or SKIV2L 2, 3. The treatment of THE syndrome requires a multidisciplinary team approach, including:
- Nutritional support: Total parenteral nutrition (TPN) is often necessary, especially in infancy, and enteral feeding should be introduced gradually as tolerated 4.
- Diarrhea management: Anti-diarrheal medications like loperamide should be used cautiously, and electrolytes and fluid balance should be monitored closely 1.
- Liver care: Regular liver function tests and ultrasounds should be performed, and ursodeoxycholic acid may be prescribed for cholestasis 3.
- Hair and skin care: Gentle hair care practices and moisturizing skin treatments should be used to manage hair abnormalities and skin hyperpigmentation 5.
- Developmental support: Early intervention with physical, occupational, and speech therapies is essential to support developmental delays 4.
- Immunological monitoring: Regular check-ups are necessary to monitor increased susceptibility to infections 2.
- Genetic counseling: Genetic counseling is crucial for family planning purposes, as THE syndrome is a genetic disorder 5.
Management Strategies
The management of THE syndrome requires a comprehensive approach, including:
- Multidisciplinary team care: A team of gastroenterologists, hepatologists, nutritionists, and developmental specialists should be involved in the management of THE syndrome 4.
- Regular follow-ups: Regular follow-ups are crucial to adjust treatment as the child grows and symptoms evolve 1.
- Supportive care: Supportive care measures, such as total parenteral nutrition and continuous supportive care, may be necessary to manage symptoms and prevent complications 1.