Familial adenomatous polyposis in children younger than age ten years: A multidisciplinary clinic experience

Thomas M. Attard, Tanya Tajouri, Kristin D. Peterson, Susan Tinley, Alan G. Thorson, Henry T. Lynch

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

PURPOSE: Children with familial adenomatous polyposis have a greater mortality and morbidity in the first decade of life compared with the general population. Some children with a more severe disease phenotype present early with colorectal adenomata and may require colectomy at an early age. We present our multidisciplinary clinic experience with familial adenomatous polyposis in children younger than age ten years at the time of presentation. METHODS: A cross-sectional analysis was performed on all patients with suspected or confirmed familial adenomatous polyposis presenting in the first decade of life and followed by the multidisciplinary Pediatric Hereditary Polyposis Clinic at our institutions. Analysis included demographics, clinical presentation and course, gene mutation testing, endoscopic-histologic findings, and surgical outcome. RESULTS: Twenty-two children (11 males) presented with suspected or confirmed familial adenomatous polyposis. Two were discharged from follow-up after negative adenomatous polyposis coli gene mutation testing. The rest underwent annual hepatoblastoma surveillance through age ten years with negative findings. Twelve patients presented with symptoms: six had de novo familial adenomatous polyposis. Seven had gastrointestinal hemorrhage and went on to colonoscopy. Four patients with adenomatous polyposis coli gene mutation at codon 1309 were referred for colectomy before age ten years. Referral to colectomy was earlier in patients with 1309 mutation and with de novo familial adenomatous polyposis. CONCLUSIONS: Children with familial adenomatous polyposis younger than age ten years may present presymptomatically for disease surveillance. Familial adenomatous polyposis with adenomatous polyposis coli gene mutation at codon 1309 entails a risk of a more aggressive phenotype; early colectomy may be indicated in children harboring this gene mutation.

Original languageEnglish
Pages (from-to)207-212
Number of pages6
JournalDiseases of the Colon and Rectum
Volume51
Issue number2
DOIs
StatePublished - Feb 2008

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Adenomatous Polyposis Coli
Colectomy
APC Genes
Mutation
Codon
Hepatoblastoma
Phenotype
Gastrointestinal Hemorrhage
Colonoscopy
Adenoma
Genes
Referral and Consultation
Cross-Sectional Studies
Demography
Pediatrics
Morbidity
Mortality

All Science Journal Classification (ASJC) codes

  • Gastroenterology

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Familial adenomatous polyposis in children younger than age ten years : A multidisciplinary clinic experience. / Attard, Thomas M.; Tajouri, Tanya; Peterson, Kristin D.; Tinley, Susan; Thorson, Alan G.; Lynch, Henry T.

In: Diseases of the Colon and Rectum, Vol. 51, No. 2, 02.2008, p. 207-212.

Research output: Contribution to journalArticle

Attard, Thomas M. ; Tajouri, Tanya ; Peterson, Kristin D. ; Tinley, Susan ; Thorson, Alan G. ; Lynch, Henry T. / Familial adenomatous polyposis in children younger than age ten years : A multidisciplinary clinic experience. In: Diseases of the Colon and Rectum. 2008 ; Vol. 51, No. 2. pp. 207-212.
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N2 - PURPOSE: Children with familial adenomatous polyposis have a greater mortality and morbidity in the first decade of life compared with the general population. Some children with a more severe disease phenotype present early with colorectal adenomata and may require colectomy at an early age. We present our multidisciplinary clinic experience with familial adenomatous polyposis in children younger than age ten years at the time of presentation. METHODS: A cross-sectional analysis was performed on all patients with suspected or confirmed familial adenomatous polyposis presenting in the first decade of life and followed by the multidisciplinary Pediatric Hereditary Polyposis Clinic at our institutions. Analysis included demographics, clinical presentation and course, gene mutation testing, endoscopic-histologic findings, and surgical outcome. RESULTS: Twenty-two children (11 males) presented with suspected or confirmed familial adenomatous polyposis. Two were discharged from follow-up after negative adenomatous polyposis coli gene mutation testing. The rest underwent annual hepatoblastoma surveillance through age ten years with negative findings. Twelve patients presented with symptoms: six had de novo familial adenomatous polyposis. Seven had gastrointestinal hemorrhage and went on to colonoscopy. Four patients with adenomatous polyposis coli gene mutation at codon 1309 were referred for colectomy before age ten years. Referral to colectomy was earlier in patients with 1309 mutation and with de novo familial adenomatous polyposis. CONCLUSIONS: Children with familial adenomatous polyposis younger than age ten years may present presymptomatically for disease surveillance. Familial adenomatous polyposis with adenomatous polyposis coli gene mutation at codon 1309 entails a risk of a more aggressive phenotype; early colectomy may be indicated in children harboring this gene mutation.

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