Upper gastrointestinal neoplasia in familial adenomatous polyposis: prevalence, endoscopic features and management

Abstract

Background: To evaluate the prevalence of upper gastrointestinal (GI) polyps in familial adenomatous polyposis (FAP), and to discuss current therapeutic recommendations. Methods: Clinical, endoscopic, histological and treatment data were retrieved from charts of 102 patients [1958-2016]. Duodenal adenomatosis was classified according to Spigelman stages. Results: this series comprised 59 women (57.8%) and 43 men (42.1%) with a median age of 32.3 years. Patients underwent 184 endoscopic procedures, the first at a median age of 35.9 years (range, 13-75 years). Fundic gastric polyps (n=31; 30.4%) prevailed in the stomach. While only 5 adenomas were found in the stomach, 33 patients (32.4%) presented duodenal ones. Advanced lesions (n=13; 12.7%) were detected in the stomach (n=2) and duodenum (n=11). During follow-up, Spigelman stages improved in 6 (12.2%) patients, remained unchanged in 25 (51.0%) and worsened in 18 (36.7%). Carcinomas were diagnosed in the stomach and duodenum (4 lesions each, 3.9%), at median ages of 50.2 and 55.0 years, respectively. Advanced lesions and carcinomas were managed through local or surgical resections. Severe complications occurred in only 2 patients (one death). Enteroscopy in 21 patients revealed jejunal adenomas in 12, 11 of whom also presented duodenal adenomas. Conclusions: There is a high prevalence of upper GI adenomas and cancer in FAP. There were diagnosed fundic gastric polyps (30.4%), duodenal (32.4%) and jejunal adenomas (11.8%), respectively. One third of duodenal polyps progressed slowly throughout the study. The rates of advanced gastroduodenal lesions (12.7%) and cancer (7.8%) raise the need for continuous surveillance during follow-up.