Number of colorectal polyps for clinical diagnosis of familial adenomatous polyposis is –
Correct Answer: >100
Description: Ans. is 'd' i.e., >100 Familial adenomatous polyposis* This autosomal dominantly inherited condition is characterized by the development of multiple rectal and colonic adenomas around puberty.* It is due to mutation of the adenomatous polyposis coli (APC) gene, allowing genetic testing in the 75 percent of families in which a mutation can be identified.* A colonoscopy and biopsy will confirm the diagnosis.* FAP is defined clinically by the presence of more than 100 colorectal adenomas.* As this condition is premalignant, a total colectomy must be performed; often, the rectum can be preserved, but regular flexible endoscopy and removal of polyps before they develop carcinoma are required.* The operation of restorative proctocolectomy with ileal pouch- anal anastomosis is an alternative if proctectomy is required: the rectum is replaced by a 'pouch* of folded ileum.* A pan-proctocolectomy with permanent ileostomy is necessary in some instances, especially when patient follow up may be impractical.
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