About a case of familial adenomatous polyposis

The authors present a case of FAP, familial adenomatous polyposis. This condition comprises 3 different syndromes characterized by the development of numerous polyps in the colon. Other different expressions of the same genetic anomaly are: familial adenomatous polyposis coli, Gardner's syndrome and Turcot's syndrome. The main risk for these pathologies consists in the frequent cancer outcome, which usually occurs between the 4th and the 5th decade of life and, however, after about 12 years from the first diagnosis. The patient came to the authors' observation in the surgery room of the department of geriatrics, in the university of Catania, where patients from South Italy and Sicily are treated. He had a severe anemic condition and poor general health. At the time of the diagnosis the patient, 56 years old, was subjected to endoscopic investigations which showed extensive polyposis of the entire colon and of the stomach, later on typified as 'Familial polyposis'. He was then subjected to total colectomy and gastric polypectomy. Besides, the patient and his direct family members (4 children and 2 sisters) were also genetically screened. The results proved that the patient and 3 of his children presented a genetic mutation located in connection with one of the two alleles of the APC gene. The potentially cancerous evolution makes it necessary to perform a genetic screening of all direct relatives of patients affected by FAP in order to both uncover the genetic anomaly responsible for this pathology and to prevent cancer, which is the natural outcome of this disease.