Gastrointestinal diseases among relatives of patients with esophageal atresia with or without tracheoesophageal fistula.

BACKGROUND

Several studies have identified genetic factors that are associated with the formation of isolated and non-isolated esophageal atresia with or without tracheoesophageal fistula (EA/TEF) in human and mice. Some of these genetic factors like FOXF1/Foxf1 are associated with Barrett syndrome, esophageal carcinoma or tumors of the gastrointestinal tract. Here, we investigated the prevalence of common gastrointestinal diseases among EA/TEF patients and their first- and second-degree relatives (parents and grandparents).

METHODS

We send out a questionnaire to 280 EA/TEF families asking for the presence of Barrett syndrome, Achalasia and carcinoma of the esophagus, the stomach, the small and large intestine among first- and second-degree relatives.

RESULTS

In 32 of 124 families we found at least one affected family member with a possible association of colon carcinoma and the occurrence of EA/TEF within the same family.

CONCLUSIONS

Further studies are needed to evaluate a possible association.