Familial polyposis syndromes create a group of hereditary syndromes of gastrointestinal (GI) tumours. This chapter focuses on those primarily affecting the large bowel and which require radical surgery.
A GI polyp is defined as a mass of the mucosal surface protruding into the bowel lumen. Polyps can be neoplastic, non-neoplastic or submucosal. GI poly-posis is characterised by multiple polyps within the GI tract (GIT). A variety of polyposis syndromes can affect the GIT. Familial polyposis syndromes can be classified as familial, inherited (autosomal dominant) or nonfamilial. Inherited polyposis syndromes can be further subdivided into two groups depending on whether the polyps are adenomas or hamartomas. Adenomatous polyposis syndromes include the classic familial adenomatous polyposis (FAP), Gardner's syndrome and Turcot syndrome. Hamartomatous familial polyposis syndromes include Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), Cowden disease and Ruvalcaba-Myhre-Smith syndrome. The non-inherited polyposis syndromes include Cronkhite-Canada syndrome and a variety of miscellaneous non-familial polyposis.
From a prognostic viewpoint, these syndromes must be recognised, because adenomatous polyps are premalignant. These syndromes should be considered when an intestinal polyp is recognized in the young, when two or more polyps are seen in any patient, when colic carcinoma is discovered in patients younger than 40 years and when extraintestinal manifestations associated with these syndromes are discovered. GI polyps may be asymptomatic but may also occur with rectal bleeding and diarrhoea. The urgency of case tracing and genetic counseling is related not so much to symptoms of the disease but to the potential for development of a colic carcinoma. It is probable that patients with FAP, if untreated, will develop a colic carcinoma.
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