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Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,877
Online ISSN 1827-1626
Agnifili A., Schietroma M., Mattucci S., Carloni A., Caterino G., Rossi M., Pistoia M. A., Carlei F.
The authors underline the important aspects of juvenile familial polyposis (JFP), a disease transmitted as an autosomal dominant trait. A case of JFP characterized by the presence of hundreds of polyps in the colo-rectal intestinal tract, is analyzed. The single juvenile polyp, multiple polyps (>=5 polyps) and the sporadic form are examined. These are mucous hamartomas which can undergo neoplastic transformation (in carcinoma in 68% of untreated cases), a behaviour similar to that of adenomatous polyps. They differ from the later due to the following features: epidemiology (earlier appearance age), anatomopathology (stroma), clinical observation (self-recovery in some cases) and genetics (10q23.3-18q21, genetic mutations in a locus different those of adenomatous polyps). It is also necessary to determine its extension by means of colonoscopy, ileoscopy, gastroscopy and small bowel barium enema. Patients' screening through construction of the genealogical family tree is fundamental. Isolation of possible degenerative aspects of the polyps through biopsy is also fundamental. Single or multiple polyps are treated endoscopically, the juvenile polyposis is treated surgically (colectomy, total colectomy). A rigorous follow-up of the patients and their family members is recommended.