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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Characterizing Pediatric Familial Adenomatous Polyposis in Patients Undergoing Colectomy in the United States

Colleen B Flahive1, Amanda Onwuka2, Lee M Bass3

  • 1Division of Gastroenterology Hepatology and Nutrition, Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH.

The Journal of Pediatrics
|September 24, 2021
PubMed

Insights

Pediatric colectomy for familial adenomatous polyposis (FAP) occurred earlier than recommended. Ileal pouch anal anastomosis is the primary surgical approach in US pediatric centers, with limited pre- and post-operative endoscopic assessment.

Area of Science:

  • Pediatric Surgery
  • Gastroenterology
  • Genetics

Background:

  • Familial adenomatous polyposis (FAP) is a genetic disorder predisposing individuals to colorectal cancer.
  • Colectomy is a standard treatment for FAP, but optimal timing and surgical approaches in pediatric patients require characterization.
  • Understanding care patterns for pediatric FAP patients is crucial for improving outcomes.

Purpose of the Study:

  • To characterize a multi-institutional cohort of pediatric patients who underwent colectomy for FAP.
  • To analyze surgical procedures and endoscopic assessment trends in this population.

Main Methods:

  • Retrospective cohort study using the Pediatric Health Information System (PHIS).
  • Identified patients aged 2-21 years who underwent colectomy for FAP between 2009-2019.
  • Validated inclusion criteria at three children's hospitals and analyzed demographics, clinical, surgical, and endoscopic data.

Main Results:

  • A cohort of 428 pediatric FAP patients undergoing colectomy was identified.
  • Median age at colectomy was 14 years; ileal pouch anal anastomosis was performed in 62% of patients.
  • Endoscopic assessment occurred before colectomy in 40% and after surgery in 22% of the cohort.

Conclusions:

  • Colectomy for pediatric FAP occurred at a younger age than guideline recommendations.
  • Ileal pouch anal anastomosis is the predominant surgical procedure in US pediatric centers for FAP.
  • Limited endoscopic assessment suggests the surgical institution plays a minor role in overall patient care.
Abstract

Keywords:
cancer predisposition syndromesileal-pouch anal anastomosis (IPAA)ileorectal anastomosis (IRA)polyposis

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