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

Florian Zeck, Heiko Reutter


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.