Purpose: Patients with familial adenomatous polyposis (FAP) exhibit increased susceptibility to developing small intestinal polyposis and malignancies. Here we examined the impact of scheduled versus elective upper endoscopic (EGD) screening and treatment interventions for polyps of differing disease severity (according to the Spigelman Classification), in FAP patients from a single center database.
Methods: Data was obtained from a single center retrospective review of 233 FAP patients from 1980-2009. We identified individuals with duodenal polyposis and/or malignancy, examined their disease course and treatments, and evaluated the impact of scheduled endoscopic surveillance or surgical management and demographic data on outcomes.
Results: We identified 233 patients, of whom 130 had EGDs during their surveillance. Of these, 69 patients exhibited duodenal polyposis, in comparison to those without polyps, over an average surveillance of 68.3 months (p=0.74), receiving 4(SD=3.2) EGDs (p<0.0001) with a mean interval of 19 months (p=0.009). Patients primarily presented with Spigelman stage I polyps (85%, p<0.0001) at 35(SD=13) years, with one patient (<1%) developing ampullary adenocarcinoma at age 43. Duodenal polyposis was managed over patients' lifetime through endoscopic resection (52%), surgery (10%), and observation (38%) (p<0.0001). Treatment interventions favored observation or endoscopic resection for lesser Spigelman staging compared to local/definitive surgery for higher stages. There was also a shift towards endoscopic intervention over surgery during the screening period (p=.005). Surgery was preceded by longer surveillance (20.7 months) compared to endoscopic resection (15 months) (p=0.6, NS) and more EGDs [mean/SD=3.4/4] versus mean/SD=0.6/0.8 (p<0.0001). Recurrence rates for endoscopic intervention were 85% compared to 40% with surgery (HR =14.16, 95% CI =1.53˜131.3, p =.0197). Disease progression was noted 29% of the time following endoscopic observation compared to 10% following endoscopic or surgical intervention (HR= 0.38, 95% CI = 0.17˜0.87, p=0.0214).
Conclusion: Our single center 30-year retrospective review revealed a cumulative prevalence of 55% for duodenal polyposis, which is comparable to other reports. The majority of these polyps were successfully managed with endoscopic intervention or by observation. By contrast, our findings reveal an incidence of duodenal or periampullary malignancy of <1%, considerably lower than reported in other studies (up to 13%). These findings affirm the importance of maintaining an FAP registry to implement regular endoscopic screening, adherence to routine follow up, and aggressive intervention when indicated.