Current Practice of Hereditary Polyposis Syndromes in Children: A Survey of Providers Treating Pediatric Patients.

Data on the care of pediatric patients with hereditary polyposis syndromes (HPS) including familial adenomatous polyposis (FAP), juvenile polyposis syndrome, and Peutz-Jeghers syndrome are limited. We aim to describe the current practice patterns for HPS. An anonymous survey was distributed to pediatric gastroenterologists, pediatric surgeons, and adult colorectal surgeons. A total of 150 pediatric gastroenterologists and 129 surgeons started the survey, and 80 gastroenterologists and 70 surgeons completed the survey. A total of 62% of pediatric gastroenterologists identified that their clinical care most closely follows the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition position statement and 42% of surgeons reported following the National Comprehensive Cancer Network guidelines (P < 0.001). For gastroenterologists, 76% currently manage FAP (61% follow 1-5 patients) and 34% recommended genetic testing at birth or first presentation. At 10 to 14 years, 91% recommended initial colonoscopy. High-grade dysplasia (78%) was the most important factor for surgical referral for colectomy. A total of 43% reported documenting the number of rectal polyps and 31% referred to a surgeon for <50 polyps. Seventy-five percent manage juvenile polyposis syndrome and 56% manage Peutz-Jeghers syndrome. For surgeons, 81% currently manage FAP (56% follow 1-5 patients) and 68% follow patients <18 years. Twelve to 15 years was the most common age (47%) at colectomy. High-grade dysplasia (57%) was the most important factor for surgery. In the previous 12 months, 56% had not performed a colectomy. Ileal pouch-anal anastomosis was the most common reported surgery for FAP. Pediatric gastroenterologists and surgeons typically manage few pediatric patients with HPS, with significant heterogeneity and deviation from guidelines. Continued medical education is critical to standardizing care for pediatric HPS.

Prevention relevance: Appropriate screening and surveillance in pediatric hereditary polyposis are critical in the early detection of intestinal cancers. See related Spotlight, p. 579.