Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series

Juvenile polyposis syndrome is one of the hamartomatous polyposis syndromes and demonstrates phenotypic heterogeneity. All patients with juvenile polyposis develop colorectal polyps and are at risk of colorectal cancer. Small-bowel involvement is variably described. Small-intestinal cancer is reported but is rare and there is no evidence-based protocol for small-intestinal surveillance. This case series reports the small-bowel capsule endoscopy findings and genetic mutational analyses of ten adults (7-male; median age 39.2 years, interquartile range 37.4 – 42.0 years) with documented juvenile polyposis syndrome. Two patients had small-bowel polyps beyond the range of standard gastroscopy identified at capsule endoscopy: a 6-mm ileal polyp in one, and 10-mm and 6-mm ileal polyps in the second (histology unknown). Duodenal polyps were detected in a third patient at capsule endoscopy. Three further patients had previously documented duodenal polyps at surveillance gastroscopy. A SMAD4 mutation was identified in seven patients but there was no obvious association with gastric/small-bowel polyp burden. In conclusion, capsule endoscopy provided information additional to conventional endoscopy in patients with juvenile polyposis syndrome and was well tolerated. However, no lesions requiring clinical intervention were identified and polyp numbers were small. Capsule endoscopy may appropriately be used as a baseline investigation for the identification of patients with large or dense small-bowel polyps for whom ongoing small-bowel investigation would be recommended. Patients in whom polyps are confined to the colon are unlikely to require ongoing small-bowel review.

References

• 1 Mauro J, Prior J T. Gastrointestinal polypoid lesions in childhood.  Cancer. 1957;  10 131-137
• 2 Morson B C. Some peculiarities in the histology of intestinal polyps.  Dis Colon Rectum. 1962;  5 337-344
• 3 McColl I, Busxey H J, Veale A M. et al . Juvenile polyposis coli.  Proc R Soc Med. 1964;  57 896-897
• 4 Burt R W, Bishop D T, Lynch H T. et al . Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer.  Bull World Health Organ. 1990;  68 655-665
• 5 Jass J R, Williams C B, Bussey H J. et al . Juvenile polyposis – a precancerous condition.  Histopathology. 1988;  13 619-630
• 6 Howe J R, Sayed M G, Ahmed A F. et al . The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.  J Med Genet. 2004;  41 484-491
• 7 Pyatt R E, Pilarski R, Prior T W. Mutation screening in juvenile polyposis syndrome.  J Mol Diagn. 2006;  8 84-88
• 8 Sachatello C R, Hahn I S, Carrington C B. Juvenile gastrointestinal polyposis in a female infant: report of a case and review of the literature of a recently recognized syndrome.  Surgery. 1974;  75 107-114
• 9 Hofting I, Pott G, Stolte M. The syndrome of juvenile polyposis [in German].  Leber Magen Darm. 1993;  23 107-118, 111–112
• 10 Desai D C, Murday V, Phillips R K. et al . A survey of phenotypic features in juvenile polyposis.  J Med Genet. 1998;  35 476-481
• 11 Panchagnula R, Kini U. Non familial juvenile polyposis presenting as chronic intestinal obstruction.  J Assoc Physicians India. 2000;  48 1020-1021
• 12 Jass J R. Juvenile polyposis. In: Phillips RTJ, Spiegelman A, eds Familial adenomatous polyposis and other polyposis syndromes. London; Edward Arnold 1994: 203-214
• 13 Agnifili A, Verzaro R, Gola P. et al . Juvenile polyposis: case report and assessment of the neoplastic risk in 271 patients reported in the literature.  Dig Surg. 1999;  16 161-166
• 14 Rodriguez-Bigas M A, Penetrante R B, Herrera L. et al . Intraoperative small bowel enteroscopy in familial adenomatous and familial juvenile polyposis.  Gastrointest Endosc. 1995;  42 560-564
• 15 Sayed M G, Ahmed A F, Ringold J R. et al . Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.  Ann Surg Oncol. 2002;  9 901-906
• 16 Dunlop M G. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers syndrome.  Gut. 2002;  51 (Suppl 5) V21-V27
• 17 Wirtzfeld D A, Petrelli N J, Rodriguez-Bigas M A. Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations.  Ann Surg Oncol. 2001;  8 319-327
• 18 Brown G, Fraser C, Schofield G. et al . Video capsule endoscopy in Peutz-Jeghers syndrome: a blinded comparison with barium follow-through for detection of small-bowel polyps.  Endoscopy. 2006;  38 385-390
• 19 Mata A, Llach J, Castells A. et al . A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromes.  Gastrointest Endosc. 2005;  61 721-725
• 20 Soares J, Lopes L, Vilas B G. et al . Wireless capsule endoscopy for evaluation of phenotypic expression of small-bowel polyps in patients with Peutz-Jeghers syndrome and in symptomatic first-degree relatives.  Endoscopy. 2004;  36 1060-1066
• 21 Schulmann K, Hollerbach S, Kraus K. et al . Feasibility and diagnostic utility of video capsule endoscopy for the detection of small bowel polyps in patients with hereditary polyposis syndromes.  Am J Gastroenterol. 2005;  100 27-37
• 22 Longo W E, Touloukian R J, West A B. et al . Malignant potential of juvenile polyposis coli. Report of a case and review of the literature.  Dis Colon Rectum. 1990;  33 980-984
• 23 Edwars D P, Khosraviani K, Stafferton R. et al . Long-term results of polyp clearance by intraoperative enteroscopy in the Peutz-Jeghers syndrome.  Dis Colon Rectum. 2003;  46 48-50
• 24 Matsumoto Y, Manabe N, Tanaka S. et al . Small-intestinal Peutz-Jeghers polyps resected by endoscopic polypectomy with double-balloon enteroscopy and removal confirmed by ultrasonography.  Dig Dis Sci. 2006;  51 2337-2340
• 25 Ohmiya N, Taguchi A, Shirai K. et al . Endoscopic resection of Peutz-Jeghers polyps throughout the small intestine at double-balloon enteroscopy without laparotomy.  Gastrointest Endosc. 2005;  61 140-147
• 26 Desai D C, Neale K F, Talbot I C. et al . Juvenile polyposis.  Br J Surg. 1995;  82 14-17
• 27 Chow E, Macrae F. A review of juvenile polyposis syndrome.  J Gastroenterol Hepatol. 2005;  20 1634-1640
• 28 Friedl W, Uhlhaas S, Schulmann K. et al . Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.  Hum Genet. 2002;  111 108-111
• 29 Postgate A, Tekkis P, Fitzpatrick A. et al . The impact of experience on polyp detection and sizing accuracy at capsule endoscopy: implications for training from an animal model study.  Endoscopy. 2008;  40 496-501
• 30 Postgate A, Despott E, Burling D. et al . Significant small-bowel lesions detected by alternative diagnostic modalities after negative capsule endoscopy.  Gastrointest Endosc. 2008;  68 1209-1214

1 These authors contributed equally to this work.