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Attenuated familial adenomatous polyposis — Clinical Guidelines

Overview

Familial Adenomatous Polyposis (FAP) is an inherited condition characterized by the development of numerous colorectal adenomas, typically leading to colorectal cancer if untreated. It is caused by mutations in the APC gene and follows an autosomal dominant inheritance pattern 1.

Diagnosis

Genetic Testing: Identification of APC gene mutations 1.

Colonoscopy: Early initiation in adolescence to detect polyps 1.

Histological Examination: Confirmation of adenomatous polyps 1.

Family History: Assessment for autosomal dominant inheritance pattern 1.

Management

Surgical Intervention: Colectomy (e.g., restorative or prophylactic) is definitive 6.

Endoscopic Management: Laser treatment for selected polyps (e.g., Nd-YAG laser) 8.

Surveillance: Regular endoscopic and imaging follow-up post-colectomy to monitor for extracolonic manifestations 7.

Risk Reduction: Focus on early detection and removal of polyps to prevent cancer development 1.

Special Populations

Pediatrics: Early screening and genetic counseling initiated in adolescence 1.

Comorbidities: Consideration of complications like mesenteric fibromatosis during surgical planning 4.

Key Recommendations

Initiate genetic testing and colonoscopy screening in adolescents with a family history of FAP (Evidence: Expert opinion) 1.

Perform prophylactic or restorative colectomy to prevent colorectal cancer (Evidence: Expert opinion) 6.

Continue regular upper gastrointestinal surveillance post-colectomy due to risk of extracolonic cancers (Evidence: Expert opinion) 7.

References

1 Hyer W, Cohen S, Attard T, Vila-Miravet V, Pienar C, Auth M et al.. Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper From the ESPGHAN Polyposis Working Group. Journal of pediatric gastroenterology and nutrition 2019. link 2 . Tumorigenic Colonic Bacteria May Promote Early Neoplasia. Cancer discovery 2018. link 3 Stern HS. The Canadian Familial Adenomatous Polyposis Registry: past, present and future. Journal of the Royal Society of Medicine 1996. link 4 Kyle SM, Keenan RA. Mesenteric fibromatosis preventing restorative proctectomy. The Australian and New Zealand journal of surgery 1992. link 5 Lipkin M. Colonic cell proliferation in familial polyposis. Seminars in surgical oncology 1987. link 6 Welling DR, Beart RW. Surgical alternatives in the treatment of polyposis coli. Seminars in surgical oncology 1987. link 7 Carlsson U, Ekelund G. Upper gastrointestinal carcinoma in familial polyposis. Case report. Acta chirurgica Scandinavica 1987. link 8 Herrera-Ornelas L. Endoscopic Nd-YAG laser treatment of gastrointestinal polyps in patients with familial polyposis. Seminars in surgical oncology 1987. link

Attenuated familial adenomatous polyposis