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These symptoms include: epigastric pain; nausea; vomiting; weight loss; The polyps on endoscopy are usually tiny, numerous and sessile, [3] and usually scattered throughout the fundus of the stomach, where parietal cells are more numerous. They have the same colour as the gastric mucosa, and never have a stalk. [4]
Solitary juvenile polyps most commonly occur in the rectum and present with rectal bleeding. The World Health Organization criteria for diagnosis of juvenile polyposis syndrome are one of either: More than five juvenile polyps in the colon or rectum; or; Juvenile polyps throughout the gastrointestinal tract; or
Polyps are found throughout the GI tract (most frequently in the stomach and large intestine, followed by the small intestine) though typically avoid the esophagus. [6] A biopsy will reveal them to be hamartomas; the possibility that they progress to cancer is generally considered to be low, [7] although it has been reported multiple times in the past.
Polyps and nodules can exhibit similar symptoms including hoarseness or breathiness, "rough" or "scratchy" voice, harshness in vocal quality, shooting pain from ear to ear, sensation of having "a lump in the back of the throat", neck pain, decreased pitch range in the voice, and vocal and bodily fatigue.
Colonoscopy is the usual diagnostic test of choice as it favours the common right-side location of polyps better than sigmoidoscopy if the mutation is attenuated FAP, [1] and can confirm or allow (a) the actual clinical presentation and any change to the condition, of the 'at risk' individual, (b) quantification of polyps throughout the colon ...
The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery, and small bowel. In a small number of cases, polyps have also appeared in the cerebellum.
Complications associated with Peutz–Jeghers syndrome include obstruction and intussusception, which occur in up to 69 percent of patients, typically first between the ages of 6 and 18, though surveillance for them is controversial. [7] [8] Anemia is also common due to gastrointestinal bleeding from the polyps. [8]
Inflammatory fibroid polyps have demonstrated a higher incidence in individuals with a family history of gastrointestinal polyps. [29] Activating mutations in the platelet-derived growth factor receptor alpha gene were found in 70% of cases in a genetic study involving inflammatory fibroid polyps. [30]