In Barrett’s oesophagus, healthy oesophageal epithelium is replaced with metaplastic columnar cells – the result, it is believed, of damage from prolonged exposure of the oesophagus to the refluxate of GORD. The inherent risk of progression from Barrett’s oesophagus to adenocarcinoma of the oesophagus has been established. (44)
Barrett’s oesophagus occurs more frequently and at an earlier age than in the general population, and this is believed to be due to exposure of the oesophagus to GORD from birth. Prevalence of Barrett’s in children born with OA/TOF is between 6.4% and 15% with a lag time from initial surgical correction of around ten years. (37,42,45) Prospective surveillance endoscopy of adults born with OA/TOF found prevalence of Barrett’s oesophagus between 6.6% and 31%, meaning the prevalence is at least four times that of the general population. (46,47) This data is even more striking when one considers that the vast majority of the repaired OA/TOF population is <50. TOF recurrence, long-gap OA, oesophageal stricture resection in childhood, oesophageal stricture present in adulthood, severe reflux symptoms, and age above 30 years are at increased risk for developing Barrett’s oesophagus. (46,48)
Most recently, Ten Kate et al. (in press) (49) have been routinely performing endoscopy in all adults born with OA/TOF enrolled as children in their Rotterdam OA/TOF cohort since 2013. They report endoscopic oesophagitis in 9%, columnar lined epithelium in 27% and hiatus hernia in 68%. Barratt’s oesophagus was found in 9% of this cohort. Progression to Barratt’s occurred in 4% of patients over the duration of the programme, a rate of around 0.8% per year. These patients were older, with an increased rate of hiatus hernia and GORD symptoms. They recommend endoscopic surveillance of all adults born with OA/TOF, starting at 20 years old, and recommend extending the interval to ten years (contrasting with the ESPGHAN guidelines). This recommendation is based on their youngest diagnosis of Barratt’s at 20.9 years old, and no dysplasia or malignancy diagnosed before 40 years old.
Barrett’s oesophagus should also be considered in those long-gap patients repaired by gastric pull-up and colonic interposition, as these changes have been found in the oesophageal remnant. (31,50)
Management of Barratt’s is with acid suppression medication with the aim of preventing high-grade dysplasia and malignant transformation, and occasionally anti-reflux surgery is required to control the reflux. However, neither acid suppression medicine nor anti-reflux surgery will necessarily prevent the development of Barratt’s – 40% of those who had surgery still went on to develop the changes. (46)
There is also growing evidence that there is an increased risk of oesophageal cancer in adults born with OA/TOF, although this is an ongoing area of research. There are case reports of both adenocarcinoma and squamous carcinoma in adults aged between 20 and 46. (47,51–55) A retrospective review of the OA database from the Royal Children’s Hospital in Melbourne (798 patients [309 patients older than 40 years]) was performed to identify cases of oesophageal cancer developing in this cohort. At the time of the publication, four of 309 patients had developed oesophageal squamous cell carcinoma before the age of 40 years. The cumulative incidence of oesophageal squamous cell carcinoma in this age group was 50 times that expected in the general population. (56) A fuller picture of the increased risk of oesophageal carcinoma should emerge as the population ages.
Those who have colonic interpositions are also at risk of malignancy developing. There are a number of case reports of adenocarcinoma and squamous cell carcinoma developing within colonic interpositions, including two in adults born with OA/TOF. (55,57,58)
ESPGHAN recommendations are regular clinical follow-up in every adult patient with OA, with special reference to presence of dysphagia, GORD, respiratory symptoms and anaemia with: