Background and Aims: Familial adenomatous polyposis (FAP) is a hereditary syndrome that can affect the entire GI tract. Current screening recommendations include EGD starting at age 25 to 30 years or earlier in symptomatic patients. However, few reports describe upper GI tract involvement in children with FAP that support the notion of early screening. The aim of our study is to understand the prevalence and severity of upper GI involvement in children with FAP. Methods: We performed a retrospective review of the Mayo Clinic records, between 1992 and 2016, to identify children with the diagnosis of FAP who underwent EGD examinations. A systematic review of the literature was performed to include published studies reporting children with FAP and upper GI findings. Results: The retrospective study included 69 children with a mean age of 13.5 years (range, 3-18). Thirty-six children (52%) had duodenal adenoma with low-grade dysplasia. Five children required an ampullectomy secondary to enlarged and polypoid ampullas. Combined with published studies, a total of 206 children with upper GI findings were identified, of which 87 (42%) had duodenal adenoma (1 had high-grade dysplasia). Meta-analysis of 5 series demonstrated duodenal adenoma detection rate of 39% (95% confidence interval, 21%-57%; I2 = 85%). Conclusions: The available data to date show that children with FAP can have clinically relevant lesions in the upper GI tract earlier than previously foreseen, suggesting that earlier screening may be indicated. Larger multicenter prospective studies are needed to determine the best approach and optimal age for EGD screening in children with FAP.
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging