Gardner's syndrome

For the first time in 1951, E. J. Gardner, and 2 years later E. J. Gardner and R. C. Richards described a unique disease characterized by multiple skin and subcutaneous lesions that occur simultaneously with tumor lesions of the bones and tumors of the soft tissues. At present, this disease, which combines polyposis of the gastrointestinal tract, multiple osteomas and osteofibromas, tumors of the soft tissues, is called Gardner's syndrome.

It has been established that Gardner's syndrome is a pleiotropic dominant-hereditary disease with varying degrees of penetrance, which is based on mesenchymal dysplasia. The clinical and morphological picture is multiple polyposis of the colon (sometimes also the duodenum and stomach) with a tendency to cancerous degeneration, multiple osteomas and osteofibromas of the bones of the skull and other parts of the skeleton, multiple atheromas, dermoid cysts, subcutaneous fibromas, leiomyomas, premature tooth loss. The first manifestations of the disease are usually detected in people over 10 years of age, often after 20 years. After Gardner described this symptom complex, reports appeared in the literature clarifying its clinical manifestations, in particular, in some cases, this syndrome is also described as having polyps of the duodenum and stomach. J. Suzanne et al. (1977) emphasize the danger of malignancy of colon polyps, the frequency of which reaches 95%, as well as the development of adenocarcinoma from duodenal polyps (if present); there are many similar observations in the literature. The "place" of Gardner's syndrome among other variants of hereditary forms of gastrointestinal polyposis is not yet entirely clear, in particular the fundamental difference from the form described by G. A. Fuchs (1975), in which multiple cartilaginous exostoses were observed simultaneously with polyposis of the stomach and colon, as well as from the form of H. Hartung and R. Korcher (1976), in which multiple polyposis of the gastrointestinal tract, osteomas and fibrolipomas were combined with bronchiectasis. It is possible that a variant of Gardner's syndrome ("monosymptomatic form") is an isolated lesion (polyposis) of the gastrointestinal tract. This disease should be distinguished from other types of polyps and polyposis of the gastrointestinal tract.

Symptoms of Gardner's syndrome

As with other forms of multiple polyposis, the disease may not manifest itself with any symptoms for a long time - until the period of complications - massive intestinal bleeding, obstructive intestinal obstruction, malignancy. It is believed that colorectal cancer in Gardner's syndrome (disease) occurs very often - in almost 95% of cases.

The main diagnostic method is radiological (to detect colon polyps - irrigoscopy, to detect bone lesions - radiography or scintigraphy of the skeletal system). Of the bones, the upper and lower jaws are most often affected.

Differential diagnosis

Firstly, it is necessary to carry out differential diagnostics between the usual, most common polyps - adenomatous, granulomatous, etc., on the one hand, and various forms of multiple hereditary polyposis, affecting either all parts of the digestive tract or only the large intestine. Secondly, it is necessary to take into account the "favorite" localization of polyps in one or another form of hereditary polyposis, with accompanying changes in the skin, soft tissues, bones, characteristic of certain of their forms. Thirdly, it is necessary to take into account the data of the hereditary anamnesis (the presence of one or another form of hereditary polyposis, colon cancer in one or more family members).

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Treatment of Gardner's syndrome

Treatment of Gardner's syndrome is surgical, given the extremely high risk of colorectal cancer. JQ Stauffer (1970) and others recommend prophylactic total colectomy (removal of the colon) with ileostomy or ileorectal anastomosis (in cases where no polyps in the rectum were previously detected by rectoscopy). Considering that malignancy of polyps in most cases occurs somewhat later than in hereditary familial juvenile polyposis, this prophylactic operation can be performed after the patient reaches 20-25 years of age. If surgery is refused, mandatory dispensary observation of the patient with colonoscopy at least once every 6-8 months is necessary. When parents, in whose family there was at least one case of multiple hereditary polyposis in the past, decide to have a child, medical genetic counseling is necessary. In case of complications of polyposis with intestinal bleeding, intussusception or obstructive (polyp) obstruction of the colon - emergency hospitalization in the surgical department and, as a rule, surgical treatment (if there are no serious contraindications).