Genetic mutations in FAP and conventional or laparoscopic surgical approach

Familial adenomatous polyposis (FAP) is a hereditary disease whose main characteristic is the great quantity of adenomatous polyps distributed throughout the colon and rectum and leading to their progressive degeneration. The complexity of the possible clinical presentations includes, in addition to severe or attenuated colorectal disorders, various extra-colonic manifestations such as gastric and duodenal polyposis and desmoid tumours that can require additional endoscopic or surgical treatment which complicates the therapeutic process and imposes continuative surveillance even when the colorectal disease is eradicated. Analysis of the genetic pattern of the disease, as well as a better definition of the particular aspects of APC gene mutations on chromosome 5 and its relationship to the clinical aspects of the pathology, suggest a surgical therapeutic scheme based not only on clinical criteria but also on the genetic implications outlined [1]. Unfortunately, to date, a proven correlation between the variable characteristics of the genetic error and the clinical expressions of the pathology does not exist; nevertheless, on the basis of genetic analysis, which can precisely define attenuated and severe forms, it is possible to indicate a therapeutic option rather than another type of option. To understand whether the genetic traits could be useful in directing the therapy, we examined the literature existing on the subject and performed a retrospective analysis on patients operated on at our hospital without either the patients or ourselves knowing in advance the localisation of the genetic error. The aim of our evaluation is to determine if the genetic disorder correlates with the clinical expressions, which would then lead to conservative surgery, or if the clinical criteria (for example the number and characteristics of the polyps in the rectum, presence of desmoids) should remain the only reliable factors playing a role in a correct technical choice [2]. Moreover, we analysed videolaparoscopic techniques to ascertain if they offer advantages over conventional open treatment, or if, in this specific case, the generic advantages of laparoscopy can be transferred to patients affected with FAP. In addition to the aesthetic benefits, appreciated mainly by younger patients, can laparoscopy reduce the risk of intestinal occlusions (reducing postoperative visceral adhesions) and the risk of the formation of desmoids (reducing the surgical scar, favoured site of these tumours)? Some other problems that must be assessed: how to treat duodenal, periampullary and ampullary polyps and what kind of surveillance is advised in order to detect and treat the adenomas that can develop in ileoanal pouches, even many years after surgery.