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Tuesday, March 15, 2011

FAMILIAL ADENOMATOUS POLYPOSIS (FAP)

This condition has an incidence of 1 in 24 000 and it is transmitted by autosomal dominant inheritance.
It is characterised by thousands of Small polyps diffusely scattered over the mucosal surface of the colon and rectum.
These appear at adolescence and become malignant in about 15 years; The patient often dies from carcinomatosis before the age of 40. The disease is recognised by radiological and colonoscopic examination of the colon in patients and these procedures are used in members of affected families from adolescence to diagnose the polyps.
Prevention of carcinoma means removal of the colon and rectum with permanent ileostomy, although symptomless members of the family may find ileorectal anastomosis with diathermy removal of rectal polyps and periodic surveillance more acceptable. A variant of the FAP genetic disorder is Gardner's syndrome in which exostoses (particularly mandibular) and congenital retinal hyperplasia are prominent.

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