[Familial polyposis].

Abstract

The F.A.P. is an hereditary disease autosomic dominant, characterized by the growth, from a minimum of 100 to several thousands, of adenoma of the large bowel that degenerate in carcinoma if not intervene surgically. The gene of the F.A.P. has been founded in the chromosome 5, region 5q 21-q22. The incidence is of one case above 6,850-30,000 inhabitants. The F.A.P. characterize it self besides the adenoma, of the large bowel also for the extracolic diseases (adenoma of the small bowel and of the stomach, epidermoid cysts, osteomas, dermoid tumors, congenital hypertrophy of the pigmentary epithelium of the retina). The Authors report their experience concerning a patient with F.A.P.: a man of 40 years old. The patient's genealogic tree was so composed: a brother, a sister and 2 children (a boy of 9 years old and a girl of 6 years old). They have been exposed to the following screening examinations: hemoccult test, rectal exploration, coloscopy and oculist visit). These investigations have given negative results. Because of the youth of the children it has been advised a yearly check-up. At last the Authors underline that each time a patient with F.A.P. is discovered (proband) it is necessary subject the 1 degree grade familiar to the screening above mentioned; because the life expectation in the secondary case (calls-up) discovered.