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Juvenile polyposis syndrome is characterised by the presence of more than five polyps in the colon or rectum, or numerous juvenile polyps throughout the gastrointestinal tract, or any number of juvenile polyps in any person with a family history of juvenile polyposis. People with juvenile polyposis have an increased risk of colon cancer.
Affected individuals have an increased risk of colorectal cancer, precancerous colon polyps and an increased risk of several additional cancers. About 1–2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH-associated polyposis syndrome.
Affected individuals may present with rectal bleeding, abdominal pain, diarrhea or anemia. Diagnosis is typically by way of endoscopy and cytology. [3] On colonoscopy or sigmoidoscopy polyps that vary in shape or size are present. The polyps can be sessile or pedunculated hamartomatous polyps. [1]
Traditional serrated adenoma seen under microscopy with H&E stain, showing serrated crypts. SPS may occur with one of two phenotypes: distal or proximal. [6] The distal phenotype may demonstrate numerous small polyps in the distal colon and rectum, whereas the proximal phenotype may be characterized by relatively fewer, but larger polyps in the proximal colon (cecum, ascending colon, etc.). [6]
Rectum involved: the rectum and part or all of the colon are removed. The patient may require an ileostomy (permanent stoma where stool goes into a bag on the abdomen) or have an ileo-anal pouch reconstruction. The decision to remove the rectum depends on the number of polyps in the rectum as well as the family history.
Juvenile polyps often do not cause symptoms (asymptomatic); when present, symptoms usually include gastrointestinal bleeding and prolapse through the rectum. Removal of the polyp (polypectomy) is warranted when symptoms are present, for treatment and definite histopathological diagnosis. In the absence of symptoms, removal is not necessary.
While colon polyps are not commonly associated with symptoms, occasionally they may cause rectal bleeding, and on rare occasions pain, diarrhea or constipation. [9] They are a concern because of the potential for colon cancer being present microscopically, and the risk of benign colon polyps becoming malignant over time. [10]
Gardner's syndrome (also known as Gardner syndrome, familial polyposis of the colon, [1] or familial colorectal polyposis [2]) is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. [3]