Familial (juvenile) polyposis of the colon

Familial (juvenile) polyposis of the colon is a hereditary disease with an autosomal dominant transmission route. Multiple polyposis of the colon is observed. Polyps, according to the literature, are usually detected in adolescence, but they can also be found in early childhood and even in old age. It is believed that this type of familial polyposis is extremely predisposing to the development of a cancerous tumor: the transformation of a polyp (or polyps) of the colon into a cancerous tumor is possible in 95% of cases, usually cancer develops early, before the age of 40. Combinations of polyposis of the colon with stomach cancer, ampulla of the major papilla of the duodenum (Vater's) and even with localization in the small intestine (where it is usually extremely rare) have been described, although polyps in this disease located proximal to the colon are usually not found.

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Pathomorphology

Usually, a huge number of polyps are noted throughout the colon, in some cases there are especially many of them in the rectum. Their size varies: from literally pinpoint to several centimeters in diameter. During histological examination, polyps do not have any characteristic features and do not differ from ordinary adenomatous, less often - glandular and villous types. Sometimes one or more cancerous tumors are found.

Symptoms of Familial Colon Polyposis

In most cases, the disease is asymptomatic before complications develop, and only some patients develop a tendency to frequent intestinal disorders. Polyps are detected either by chance - during a rectoscopy or colonoscopy during a medical examination, or if these studies were carried out for a completely different suspected disease. X-ray examination (irrigoscopy) can only detect large polyps (2 cm or more). Genealogical history is also of certain importance for recognizing the disease: the presence of colon polyposis (or its cancerous lesion at a relatively young age) in one or more relatives should alert the doctor to some (possibly latent polyposis) disease of this localization.

Course and complications of familial polyposis of the colon

The course of the disease may be quite favorable for some period of time - asymptomatic or with minor dyspeptic symptoms. However, complications then arise: massive intestinal bleeding with tissue necrosis of individual polyps, obstructive colonic obstruction with a 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" (symptoms), characteristic of cancer in general.

Treatment of familial colon polyposis

There is no specific treatment for familial polyposis of the colon. Considering that tumor transformation of polyps most often occurs in adolescence and older age, some doctors who are confident in this diagnosis and taking into account the sad fate of close relatives (early death from colon carcinoma) recommend colectomy with ileostomy to patients. In some cases, after removal of most of the colon, it is possible to impose an ileorectal anastomosis, which ensures a relatively normal existence for the patient. If surgical treatment is impossible (or the patient refuses it), it is recommended to follow a certain gentle diet and fractional meals (5-7 times a day), if necessary - oral administration of an appropriate individual dose of digestive enzymes (pancreatin, panzinorm, pancitrate, solizyme, somilase, etc.). These patients should be under constant medical supervision with colonoscopy at least once every 6-8 months (can be alternated with irrigoscopy). When deciding on the birth of a child, if in the family of one of the parents there was a case (or even more so several cases) of familial multiple polyposis of the colon, medical genetic counseling is necessary. If at least one case of multiple polyposis of the colon is detected, it is necessary to examine all close relatives in order to promptly detect this disease and confirm its familial, hereditary genesis.