Background and study aims: Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer. Endoscopy... Show moreBackground and study aims: Patients with familial adenomatous polyposis (FAP) undergo colectomy and lifelong endoscopic surveillance to prevent colorectal, duodenal and gastric cancer. Endoscopy has advanced significantly in recent years, including both detection technology as well as treatment options. For the lower gastrointestinal tract, current guidelines do not provide clear recommendations for surveillance intervals. Furthermore, the Spigelman staging system for duodenal polyposis has its limitations. We present a newly developed personalized endoscopic surveillance strategy for the lower and upper gastrointestinal tract, aiming to improve the care for patients with FAP. We aim to inform centers caring for FAP patients and encourage the discussion on optimizing endoscopic surveillance and treatment in this high-risk population. Methods: The European FAP Consortium, consisting of endoscopists with expertise in FAP, collaboratively developed new surveillance protocols. The proposed strategy was consensus-based and a result of several consortium meetings, discussing current evidence and limitations of existing systems. This strategy provides clear indications for endoscopic polypectomy in the rectum, pouch, duodenum and stomach and defines new criteria for surveillance intervals. This strategy will be evaluated in a 5-year prospective study in nine FAP expert centers in Europe. Results: We present a newly developed personalized endoscopic surveillance and endoscopic treatment strategy for patients with FAP aiming to prevent cancer, optimize endoscopic resources and limit the number of surgical interventions. Following this new strategy, prospectively collected data in a large cohort of patients will inform us on the efficacy and safety of the proposed approaches. Show less
Familial adenomatous polyposis (FAP) is a rare autosomal dominant inherited disease caused by a pathogenic mutation in the APC gene with a prevalence of about 1 in 8500 to 10,000 births [1]. Patie... Show moreFamilial adenomatous polyposis (FAP) is a rare autosomal dominant inherited disease caused by a pathogenic mutation in the APC gene with a prevalence of about 1 in 8500 to 10,000 births [1]. Patients with “classical FAP” do have a typical phenotype and develop 100 to 1000 adenomas throughout the colon. If left untreated, colorectal cancer will occur at a median age 35 to 45 years. Prophylactic surgery, usually either resection of the colon with an ileo-rectal anastomosis (IRA) or resection of the colon and rectum with an ileo-pouch anal anastomosis (IPAA), is offered to mitigate this risk of cancer. Timing and type of prophylactic surgery depends on the number, size, and histology of the adenomas and should be personalized. Show less
Main Recommendations ESGE recommends that individuals with Lynch syndrome should be followed in dedicated units that practice monitoring of compliance and endoscopic performance measures. Strong... Show moreMain Recommendations ESGE recommends that individuals with Lynch syndrome should be followed in dedicated units that practice monitoring of compliance and endoscopic performance measures. Strong recommendation, low quality evidence, level of agreement 100 %. ESGE recommends starting colonoscopy surveillance at the age of 25 years for MLH1 and MSH2 mutation carriers and at the age of 35 years for MSH6 and PMS2 mutation carriers. Strong recommendation, moderate quality evidence, level of agreement 100 %. ESGE recommends the routine use of high-definition endoscopy systems in individuals with Lynch syndrome. Strong recommendation, high quality evidence, level of agreement 100 %. ESGE suggests the use of chromoendoscopy may be of benefit in individuals with Lynch syndrome undergoing colonoscopy; however routine use must be balanced against costs, training, and practical considerations. Weak recommendation, moderate quality evidence, level of agreement 89 %. ESGE recommends definition of familial risk of colorectal cancer as the presence of at least two first-degree relatives with colorectal cancer or at least one first-degree relative with colorectal cancer before the age of 50 years. Strong recommendation, moderate quality evidence, level of agreement 92 %. ESGE recommends colonoscopy surveillance in first-degree relatives of colorectal cancer patients in families that fulfill the definition of familial risk of colorectal cancer. Strong recommendation, moderate quality evidence, level of agreement 100 %. Show less
