Pediatric Hereditary Polyposis Syndromes: Diagnosis, Surveillance, and Management Across Evolving Guidelines

Pediatric hereditary polyposis syndromes require lifelong surveillance and multidisciplinary management, yet pediatric care remains variable despite multiple evolving guideline frameworks. This review synthesizes current society recommendations and contextualizes their implementation within pediatric clinical practice.

A narrative review was performed using current literature and major hereditary polyposis guideline frameworks selected for their pediatric relevance and clinical applicability, with emphasis on pediatric considerations in familial adenomatous polyposis (FAP), attenuated FAP, juvenile polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), and rare or emerging polyposis syndromes.

The reviewed guidelines are broadly concordant in supporting syndrome-directed surveillance, but differ in pediatric specificity, age of initiation, surveillance intervals, and emphasis on extracolonic manifestations. The accompanying tables synthesize recommendations across major societies and highlight areas of concordance and variability for FAP, JPS, PJS, and less common syndromes. Key pediatric distinctions include hepatoblastoma screening in APC-associated disease, hereditary hemorrhagic telangiectasia evaluation in SMAD4-associated JPS, and early small-bowel surveillance in PJS to prevent intussusception. Persistent implementation gaps include management of genotype-negative disease, timing of surgical referral, use of advanced therapeutic endoscopy, and transition to adult care.

Pediatric hereditary polyposis syndrome management may benefit from an integrated synthesis of society recommendations, individualized by phenotype, genotype, polyp burden, available expertise, and local resources. Consolidated guideline-based tables may serve as practical reference tools that facilitate more consistent pediatric care, although their impact on clinical implementation, consistency of care, and patient outcomes remains to be established.