The Familial Adenomatous Polyposis. A Difficult Problem, Between Prevention and Treatment

Introduction: The familial adenomatous polyposis of the colon (FAP) is a rare hereditary disease, transmitted as an autosomal dominant trait due to the mutation of the APC gene. The purpose of the study is to assess, even according to the data of our experience, the possibility of clinical application of the results of the new genetic research, linking the problem to prevention and/or treatment. Some operative remarks conclude the study. Materials and methods: We observed (II clinical surgery Garibaldi Hospital in Catania, III Surgery, and Digestive Surgery Unit of the University of Catania) 16 patients on all. In Group I (FAP+) were observed 12 patients with FAP (5 male and 7 female). In group II (FAP-) 4 cases (male). All patients were part of No. 6 families. The diagnostic test and colonoscopy were diagnostics. 8 patients (and all their relatives), performed the genetic typing.