Familial Adenomatous Outcomes in Children
Familial adenomatous polyposis (FAP) is caused by mutations of the APC gene leading to formation of multiple adenomatous polyps in the colon with affected individuals experiencing malignant transformation of such polyps in their third decade of life. Thus, most patients with FAP undergo a total colectomy during their second decade of life. However, minimal data exists regarding pediatric patients with FAP undergoing colectomy, and the authors of this study used data from the United States Children’s Hospital Association (CHA) Pediatric Health Information System (PHIS) to identify patients between 2 – 21 years of age with FAP diagnosed between 2009-2019. These patients were identified using diagnostic codes from the International Classification of Diseases (ICD)-9 and ICD-10. Included patients had an ICD diagnostic code for FAP and had at least one colectomy diagnostic code. The authors then took 50 patients from three CHA-affiliated hospitals who had a history of FAP and subsequent colectomy which they identified as a “gold standard” patient list to find patients from the PHIS. This search yielded 428 pediatric patients with FAP and colectomy from 46 children’s hospitals. The median age at colectomy was 14 years (range 2-21 years, interquartile range 11-16 years), and 226 patients (56%) underwent colectomy by laparoscopy with the remainder undergoing colectomy by the open approach. Colectomy with ileal pouch anal anastomosis occurred in 264 patients (62%) while 13 patients (3%) underwent colectomy and ileorectal anastomosis while the rest of the study population had no clear surgical procedure documented. An associated desmoid tumor was present in 21 patients (5%), and 2 patients (0.5%) had a colon neoplasm. The median length of hospitalization was 7 days (interquartile range 5-9 days), and there was no significant difference in length of hospitalization based on type of colectomy. No patient experienced in-hospital mortality after colectomy, and 314 complications occurred in 169 patients (39%) within one year of surgery. Adhesive disease with or without intestinal obstruction was the most common post-surgical complication occurring in 61 patients (14%). When all pediatric hospitals in the study group were combined, 27 hospitals (59%) did fewer than one colectomy for FAP annually, and only 3 hospitals performed more than 3 colectomies for FAP annually. Interestingly, the annual colectomy rate for FAP declined by 48% during the study duration. It was noted that 257 patients (60%) had no documented endoscopic examination prior to colectomy although almost 98% of patients who did undergo endoscopic examination had some type of tissue removal (biopsy, polypectomy) prior to colectomy.
The authors note that the relatively young median age at colectomy (14 years) suggests that a subgroup of pediatric patients with FAP exist that need more stringent guidelines regarding colonoscopy screening and potential colectomy. The relative lack of documentation of endoscopic evaluation in this group of pediatric patients with FAP suggests that clear FAP screening guidelines in young patients should be considered.
Flahive C, Onwuka A, Bass L, MacFarland S, Minneci P, Erdman S. Characterizing pediatric familial adenomatous polyposis in patients undergoing colectomy in the United States. Journal of Pediatrics 2022; 245: 117-122.
Does Pancreatic Insufficiency Occur in Children with Short Bowel Syndrome?
Short bowel syndrome (SBS) in children has many causes, including as a consequence of necrotizing enterocolitis, congenital atresia, abdominal wall defects, and intestinal volvulus. SBS has a significant morbidity and mortality rate associated with complications from central lines and due to problems associated with long-term parenteral nutrition (PN) use. Thus, reducing dependency on PN is a major goal for these patients. Since many patients with SBS have fat malabsorption, the authors of this study evaluated the use of pancreatic enzyme replacement therapy (PERT) in this specific population. Pediatric patients between 4 and less than 18 years of age and adult patients between 18 and 75 years of age were recruited for this study. Specifically, pediatric patients with SBS were included if they had a history of small bowel surgery with at least 3 months of associated PN use while adult patients were included if they
had a maximum of 200 cm of small bowel length and had more than 3 bowel movements per day. Patients were excluded from the study if they had causes of fat malabsorption not related to SBS (for example, cholestatic liver disease or pancreatic insufficiency). Study patients were provided Creon® (AbbVie, Inc.) at 1500 – 2000 units / kg per meal and 750 – 1250 units / kg per snack, not exceeding 10,000 units / kg / day. Standard anthropometrics, skinfold caliper measurements, and mid-upper arm circumference measurements were obtained to determine BMI z scores, upper arm muscle area, and upper arm muscle fat area. Whole body dual energy x-ray absorptiometry (DEXA) was obtained on all patients to determine fat mass, fat free mass, and percent body fat. Dietary fat and protein intake was recorded using a 3-day diet diary, and 72-hour stool collections were obtained on and off PERT. Fecal fat content (coefficient of fat absorption) was determined using nuclear magnetic resonance spectroscopy, and fecal nitrogen content (coefficient of nitrogen absorption) was determined using the high-temperature Dumas combustion method. Fecal elastase-1 levels also were obtained on all patients to determine exocrine pancreatic function. A total of 11 study subjects were included in this study in which 6 patients were in the pediatric age group (age range 4 – 17.9 years; mean 9 years), and 5 patients were in the adult age group (age range 18 – 75 years; mean 53.5 years). The mean pediatric small bowel length was 60 cm while the mean adult small bowel length was 80 cm.
Although the mean length of time that patient required PN was 3.4 years, only two patients were actively on PN at the time of the study.Only one patient had a low fecal elastase-1 level; however, the authors noted that this one patient had watery stool at the time of the testing which likely led to an artificially low level. Six patients had an improved coefficient of fat absorption, and eight patients had an improved coefficient of nitrogen absorption on PERT; however, there was no statistically significant change in the coefficient of fat or nitrogen absorption before or after PERT use. No significant side effects were noted during PERT use.
This study appears to show that PERT use in patients with SBS is not helpful in improving intestinal absorption; however, the number of included patients was small and the finding that some patients had an increase in either coefficient of fat absorption or coefficient of nitrogen absorption suggests that there may be a subset of patients with SBS that could benefit from PERT. However, there is no evidence currently to suggest PERT use in patients with SBS.
Sainath N, Bales C, Brownell J, Pickett-Blakely O, Sattar A, Stallings V. Impact of pancreatic enzymes on enteral fat and nitrogen absorption in short bowel syndrome. Journal of Pediatric Gastroenterology, Hepatology, and Nutrition 2022; 75: 36-41.