Family (juvenile) polyposis of the large intestine

Family (juvenile) polyposis of the large intestine is a hereditary disease with an autosomal dominant transmission route. There is multiple polyposis of the large intestine. Polyps, according to the literature, are usually found in adolescence, but they occur in early childhood, and even in old age. It is believed that this type of family polyposis has extremely to develop a cancerous tumor: the transformation of polyp (or polyps) of the colon into a cancerous tumor is possible in 95% of cases, usually the cancer develops early, up to 40 years. Combinations of polyposis of the large intestine with stomach cancer, ampulla of the large papilla of the duodenum (faterov) and even with localization in the small intestine (where it is usually very rare) are described, although there are usually no polyps with this disease located proximally to the large intestine.

[1], [2], [3], [4], [5], [6], [7], [8]

Pathomorphology

Usually, a large number of polyps of the entire colon are noted, in some cases they are especially numerous in the rectum. The size of them is different: from literally point to a few centimeters in diameter. In histological examination, polyps do not have any characteristic features and do not differ from conventional adenomatous, less often - glandular and villous type. Sometimes one or more cancers are detected.

Symptoms of family polyposis of the large intestine

In most cases, before the development of complications, the disease is asymptomatic, only in some patients there is a tendency to frequent occurrence of intestinal disorders. Polyps are detected either accidentally - with a rectomo-or colonoscopy during clinical examination, or in the case that these studies were conducted about a completely different suspected disease. X-ray examination (irrigoscopy) reveals only polyps of large size (2 cm or more). For the recognition of the disease, genealogical anamnesis also plays a significant role: the presence of a large colon in one or more relatives of a polyposis (or its cancer at a relatively young age) should alert the doctor in terms of some (possibly occult leaking polyposis) disease of this localization.

The course and complications of family polyposis of the large intestine

The course over a period of time can be quite favorable - asymptomatic or with minor dyspepsia. However, complications then arise: massive intestinal bleeding with tissue necrosis of individual polyps, obstructive colonic obstruction with polyp or several polyps that have reached a large size, and finally, cancerous degeneration of polyps, which at a certain stage of tumor development gives the disease its "clinical coloring" (symptomatology) , characteristic of cancer in general.

Treatment of family polyposis of the large intestine

There is no specific treatment for colon polyposis. Given that the tumor transformation of polyps often occurs in adolescent and older age, some doctors who are confident of this diagnosis and taking into account the sad fate of the next of kin (early death from colon carcinoma) recommend the operation of colectomy with ileostomy. In some cases, after removal of the greater part of the colon, it is possible to impose an ileorektal anastomosis, which provides the patient a relatively normal existence. If it is not possible to perform operative treatment (or refusal of the patient from it), observance of a certain sparing diet and fractional food (5-7 times a day), if necessary - ingestion of the appropriate individual dose of digestive enzyme preparations (pancreatin, panzinorm, pancitrate, solizim, somilase and etc.). These patients should be under the constant supervision of a physician with at least every 6-8 months of colonoscopy (alternating with irrigoscopy). When deciding whether to give birth to a child, if one of the parents had a case (or, even more so, several cases) of family multiple polyposis of the large intestine, medical genetic counseling is necessary. In case of detection of at least one case of multiple polyposis of the large intestine, it is necessary to examine all the immediate relatives with the purpose of timely detection of this disease and confirmation of its family, hereditary genesis.