Subscribe to RSS
Download PDF
DOI: 10.1055/a-1521-4912
Can innovation in endoscopic therapy alter clinical outcomes in patients with familial adenomatous polyposis?
Familial adenomatous polyposis (FAP) is a rare autosomal dominant inherited disease caused by a pathogenic mutation in the APC gene with a prevalence of about 1 in 8500 to 10,000 births [1]. Patients with “classical FAP” do have a typical phenotype and develop 100 to 1000 adenomas throughout the colon. If left untreated, colorectal cancer will occur at a median age 35 to 45 years. Prophylactic surgery, usually either resection of the colon with an ileo-rectal anastomosis (IRA) or resection of the colon and rectum with an ileo-pouch anal anastomosis (IPAA), is offered to mitigate this risk of cancer. Timing and type of prophylactic surgery depends on the number, size, and histology of the adenomas and should be personalized.
Publication History
Article published online:
23 August 2021
© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
-
References
- 1 Vasen HFA, Moslein G, Alonso A. et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008; 57: 707-713
- 2 Van Leerdam ME, Roos VH, van Hooft JE. et al. Endoscopic management of polyposis syndromes; European Society of Gastrointestinal Endoscopy (ESGE) Guideline. Endoscopy 2019; 51: 877-895
- 3 Monahan KJ, Bradshaw N, Dolwani S. et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut 2020; 69: 411-444
- 4 Bulow S. Clinical features in familial polyposis coli. Results of the Danish Polyposis Register. Dis Colon Rectum 1986; 29: 102-107
- 5 Patel NJ, Ponugoti PL, Rex DK. Cold snare polypectomy effectively reduces polyp burden in familial adenomatous polyposis. Endosc Int Open 2016; 4: E472-E44
- 6 Pasquer A, Benech N, Pioche M. et al. Prophylactic colectomy and rectal preservation in FAP: systematic endoscopic follow up coupled with adenomas destruction may change the natural history of polyposis. Endosc Int Open 2021; 09: E1014-E1022