What is familial adenomatous polyposis?

What is familial adenomatous polyposis?

Familial adenomatous polyposis (FAP) is characterised by the presence of profuse colonic carpeting of adenomas throughout the entire colon and rectum. The genetic basis of FAP has been shown to be primarily associated with germline mutations in the APCgene.

Which specialists are involved in the management of familial adenomatous polyposis (FAAP)?

Multi-specialty management of familial adenomatous polyposis patients is essential to ensure appropriate screening and management of these complex patients. Team members should include a primary care provider, gastroenterologist, surgeon, otolaryngologist, and geneticist.

Does the gut microbiota play a role in the development of adenomas?

Recent studies have pointed out that the gut microbiota could play a crucial role in the development of colorectal adenomas and the consequent progression to colorectal cancer.

Can probiotics improve dysbiosis in adenomatous polyposis coli (APC) Min/+mouse model?

The adenomatous polyposis coli (APC)Min/+mouse model has been extensively used to study the underlying mechanisms of colorectal carcinogenesis in familial adenomatous polyposis. Interventions aimed at improving dysbiosis by administration of probiotics, prebiotics, or antibiotics could decrease colorectal cancer development in APCmutation carriers.

Familial adenomatous polyposis. Overview. Familial adenomatous polyposis (FAP) is a rare, inherited condition caused by a defect in the adenomatous polyposis coli (APC) gene.

What are the germline mutations responsible for attenuated familial adenomatous polyposis?

Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007;71:427–433. [PubMed] [Google Scholar] 17.

Is there a polyposis registry for FAP?

? Because of the genetic nature of FAP, polyposis registries have been developed around the world. The purpose of these registries is to increase knowledge about the transmissibility of FAP, but also to document, track, and notify family members of affected individuals.

What is the prognosis of familial polyposis (FAP)?

Because familial polyposis develops very gradually over years, and can also manifest in an ‘attenuated’ form even more gradually, polyps resulting from FAP can lead to cancer developing at any point from adolescence to old age.

What is the most severe form of adenomatous polyposis?

Familial adenomatous polyposis. Of the three, FAP itself is the most severe and most common; although for all three, the resulting colonic polyps and cancers are confined to the colon wall and removal can greatly reduce the spread of cancer.

What is the mortality and morbidity associated with colonic polyposis (FAP)?

About 5% of individuals with FAP experience morbidity and/or mortality from desmoid tumors. The term Gardner syndrome is often used when colonic polyposis is accompanied by clinically obvious osteomas and soft tissue tumors.