Aim

Aim of this study is to determine the prevalence of Barrett's Esophagus (BE) in first degree relatives of patients with esophageal adenocarcinoma (EAC) and Barrett's' high grade dysplasia (HGD).

Methods

After Institutional Review board approval first degree relatives of patients with EAC/HGD underwent unsedated ultrathin trans-nasal endoscopy (UUTNE) with biopsy. BE was suspected if any salmon colored epithelial tongues were seen above the gastro-esophageal junction. A diagnosis of BE was made only if biopsy from these areas confirmed columnar lined epithelium with intestinal metaplasia.

Results

From 23 families 47 first degree relative underwent UUTNE and one patient underwent routine upper endoscopy with sedation as part of this study. The mean age of cases was 44.4 yrs. All patients tolerated the procedure well and there were no procedure related complications. BE was suspected in 16 (34%) patients and confirmed in 13/16 (27.7%) patients. There was 4 long segment (> 3cm) and 9 short segment (<3 cm) of BE.

Conclusion

There is a significantly higher than expected prevalence of BE in first degree relatives of EAC/HGD patients. This should be taken in to consideration to develop further screening guidelines. Further work is need to confirm these findings. Un-sedated trans-nasal endoscopy is a safe and well-tolerated method for BE screening.

While repair of giant paraesophageal hernia is associated with a high failure rate in the morbidly obese, laparoscopic Roux-en-Y gastric bypass and repair of giant paraesophageal hernia in the morbidly obese may be safe and effective.

Introduction:

Repair of large paraesophageal hernias by itself is associated with high failure rates in the morbidly obese. A surgical approach addressing both giant paraesophageal hernia and morbid obesity has, to our knowledge, not been explored in the surgical literature.

Methods:

A retrospective review of a bariatric surgery database identified patients who underwent simultaneous repair of large type 3 paraesophageal hernias with primary crus closure and Roux-en-Y gastric bypass (RYGB). Operative time, intraoperative and 30-day morbidity, weight loss, resolution of comorbid conditions and use of anti-reflux medication were outcome measures. Integrity of crural closure was studied with a barium swallow.

Results:

Three patients with a mean body mass index of 46kg/m2 and mean age of 46 years underwent repair of a large paraesophageal hernia, primary crus closure, and RYGB. Mean operative time was 241 minutes and length of stay was 4 days. There was no intraoperative or 30-day morbidity. One patient required endoscopic balloon dilatation of the gastrojejunostomy. At 12 months, all patients were asymptomatic with excellent weight loss and resolution of comorbidities. Contrast studies showed no recurrence of the hiatal hernia.

Conclusion:

Simultaneous laparoscopic repair of large paraesophageal hernias in the morbidly obese is safe and effective.

Familial aggregation of esophageal adenocarcinomas, esophagogastric junction adenocarcinomas, and their precursor Barrett’s esophagus has been termed Familial Barrett’s Esophagus (FBE). Numerous studies documenting increased familial risk for these diseases raise the hypothesis that there may be an inherited susceptibility to the development of BE and its associated cancers. In this study, using segregation analysis for a binary trait as implemented in S.A.G.E. 6.0.1, we analyzed data on 881singly ascertained pedigrees in order to determine whether FBE is caused by a common environmental or genetic agent and, if genetic, to identify the mode of inheritance of FBE. The inheritance models were compared by likelihood ratio tests and Akaike’s A Information Criterion. Results indicated that random environmental and/or multifactorial components were insufficient to fully explain the familial nature of FBE, but rather there is segregation of a major type transmitted from one generation to the next (p-value < 10−10). An incompletely dominant inheritance model together with a polygenic component fits the data best. For this dominant model, the estimated penetrance of the dominant allele is 0.1005 (95% confidence interval, CI: 0.0587 to 0.1667) and the sporadic rate is 0.0012 (95% CI: 0.0004 to 0.0042), corresponding to a relative risk of 82.53 (95% CI: 28.70 to 237.35), or odds ratio of 91.63 (95% CI: 32.01 to 262.29). This segregation analysis provides epidemiological evidence in support of one or more rare autosomally inherited dominant susceptibility allele(s) in FBE families, and hence motivates linkage analyses.