Polyposis Congenital Familial

Congenital familial polyposis is a rare hereditary disease of the gastrointestinal tract (GIT), which manifests itself in various forms of intestinal polyps (from several to many) and early manifestation of a malignant formation (primary malignant tumor).

The genetic basis of this disease is due to the presence of DNA mutations in cells (mainly in the PTEN gene), leading to disruption of the functioning of the chloride pump molecule, causing long-term dehydration of intestinal cells. As a result, water and electrolytes accumulate in the cells, which leads to increased growth, replacement of the normal mucous membrane with a mucous membrane with a thick layer of poorly differentiated epithelial tissue, the growth of foci of hyperplasia, the appearance and progression of extensive and deep heterotopic foci of growth of epithelial cells (polyps). As a rule, the disease occurs as a spontaneous genomic codominant manifestation and has autosomal dominant inheritance. These features of the etiology of the disease prevent diagnosis in the early stages of development and establishment of the exact size of polyps for their effective resection.

According to WHO statistics, the incidence of congenital familial polyposis is 1 case in 50,000