A recent review article (SP MacFarland et al. JPGN 2019; 69: 273-80) provides clearcut guidelines on polyposis syndromes in pediatric patients.
Table 1 lists the syndrome, the mutated gene (s), and recommended screening (onset & interval). The article and table provide more nuance/guidance but the basic recommendations are noted as follows:
- For Familial Adenomatous Polyposis (FAP), the authors recommend onset of colonoscopy at 10 years and with 1 year intervals. “Colectomy recommended by 20 to 25 years.” EGD is recommended at 18 to 20 years. Thyroid ultrasound is recommended at 18 years. Alpha-fetoprotein levels to check for hepatoblastoma are recommneded every 3-6 months in infancy up to 5 years of age.
- For Juvenile Polyposis Syndrome, EGD and Colonoscopy are recommended at 15 years with interval evaluations at 1-3 years.
- For Peutz-Jeghers syndrome, EGD and Colonoscopy are recommended at 8 to 10 years (along with small bowel evaluation with either MRE or video capsule). Interval followup is recommended every 2-3 years.
Table 2 provides suggestions for familial screening in pediatric polyposis syndromes.
Related blog posts:
- What I Like About ESPGHAN Familial Adenomatous Polyposis Guidelines These recommendations, however, suggest starting screening at 12-14 years.
- ESPGHAN Juvenile Polyposis Syndrome Recommendations These recommendations are different in that they do not recommend EGD in the pediatric age group: “Surveillance of the upper GI tract in affected or at-risk JPS patients is not required in childhood or teenage years, unless there is unexplained anaemia or upper GI symptoms.”
- ESPGHAN Peutz-Jeghers syndrome Guidelines
- Are You Familiar with CMMR-D? The term CMMR-D refers to constitutional mismatch repair deficiency. This occurs when an individual inherits two MMR gene defects (rather than one gene defect in Lynch syndrome); with CMMR-D screening recommendations include yearly endoscopic evaluation beginning at age 3 years or at diagnosis.
- Updated Guidelines on Genetic Testing/management for Hereditary GI Cancer Syndromes
- Update for Peutz-Jegher Syndrome
- Screenshots: Peutz-Jeghers Syndrome, Alcohol #1 for Liver Transplantation, Case report Fanconi Syndrome due to Tenofovir Alafenamide
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