From the Guidelines
Tracheoesophageal (TE) fistula with Hepatic and Enteric anomalies, also known as Vater (VACTERL) association, is a rare congenital disorder characterized by multiple abnormalities affecting the respiratory, digestive, and hepatic systems, requiring a multidisciplinary approach for management and regular follow-up with specialists to improve outcomes and quality of life 1. Key features of VACTERL association include:
- Tracheoesophageal fistula
- Hepatic anomalies
- Enteric anomalies
- Other associated congenital anomalies such as vertebral, cardiac, and renal abnormalities Management of VACTERL association requires a comprehensive approach, including:
- Surgical repair of tracheoesophageal fistula and other associated anomalies in infancy
- Liver function monitoring and potential transplantation if severe hepatic disease develops
- Nutritional support, often requiring parenteral nutrition
- Regular follow-up with specialists in pulmonology, gastroenterology, cardiology, and other relevant fields to monitor for potential complications and improve quality of life 1 Regular follow-up with a multidisciplinary team is crucial to monitor for potential complications, such as gastroesophageal reflux disease, peptic oesophagitis, and respiratory problems, and to improve quality of life in patients with VACTERL association 1. It is essential to note that the prognosis of VACTERL association varies depending on the severity of the malformations and the presence of associated anomalies. Early diagnosis and intervention are crucial for improving outcomes, and genetic counseling is recommended for affected families to discuss the risk of recurrence and potential genetic implications 1.
From the Research
Definition and Overview of VATER Association
- VATER association, also known as VACTERL association, is a rare congenital disorder characterized by the presence of at least three of the following anomalies: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities 2, 3, 4.
- Tracheoesophageal (TE) fistula is a condition where there is an abnormal connection between the trachea and the esophagus, which can lead to respiratory and digestive problems.
- Hepatic and enteric anomalies refer to abnormalities in the liver and intestines, respectively.
Clinical Features of Trichohepatoenteric Syndrome
- Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder characterized by intractable diarrhea, woolly hair, facial dysmorphism, and liver abnormalities 3, 4, 5, 6.
- The syndrome is caused by mutations in the TTC37 or SKIV2L genes, which are involved in the regulation of gene expression and the maintenance of genome stability.
- Clinical features of THES include:
- Intractable diarrhea
- Woolly hair
- Facial dysmorphism
- Liver abnormalities
- Immune system dysfunction
- Intrauterine growth restriction
Relationship between VATER Association and Trichohepatoenteric Syndrome
- While VATER association and THES are two distinct conditions, they can share some common features, such as tracheoesophageal fistula and hepatic anomalies.
- However, THES is a specific syndrome with a distinct set of clinical features and genetic causes, whereas VATER association is a broader term that encompasses a range of congenital anomalies.
- There is no direct evidence to suggest that THES is a part of the VATER association, but rather a separate entity with its own unique characteristics 3, 4, 5, 6.