Syndrome (disease) of Gardner

For the first time in 1951, E. J. Gardner, and 2 years later, E. J. Gardner and R. C. Richards described a peculiar disease characterized by multiple cutaneous and subcutaneous lesions occurring simultaneously with tumor lesions of the bones and tumors of soft tissues. Currently, this disease, combining polyposis of the gastrointestinal tract, multiple osteomas and osteofibromas, tumors of soft tissues, is called Gardner's syndrome.

It is established that Gardner's syndrome is a pleiotropic dominant-hereditary disease with varying degrees of penetrance, which is based on mesenchymal dysplasia. A clinical and morphological picture is the multiple polyposis of the large intestine (sometimes also of the duodenum and stomach) with a tendency to cancer degeneration, multiple osteomas and osteofibromes of the bones of the skull and other parts of the skeleton, multiple atheromas, dermoid cysts, subcutaneous fibroids, leiomyomas, premature tooth loss. The first manifestations of the disease are usually found in people older than 10 years, often after 20 years. After describing this symptom complex in Gardner, reports appeared that clarified his clinical manifestations, in particular, in this case the presence of polyps of the duodenum and stomach was also described in this syndrome. J.Suzanne et al. (1977) emphasize the risk of malignant colon polyps, whose frequency reaches 95%, as well as the development of adenocarcinoma from polyps of the duodenum (if available), many similar observations are in the literature. The "place" of Gardner's syndrome among other variants of hereditarily transmitted forms of polyposis of the digestive tract is not yet quite 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 digestive tract, osteomas and fibrolipomas were combined with bronchiectasias. It is possible that the variant of Gardner's syndrome ("monosymptomatic form") is an isolated lesion (polyposis) of the digestive tract. It is necessary to distinguish this disease from other varieties of polyps and polyposis of the digestive tract.

Symptoms of Gardner's Syndrome

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

The main diagnostic method is X-ray (for the detection of polyps of the large intestine - irrigoscopy, for the detection of bone lesions - radiography or scintigraphy of the skeleton). The upper and lower jaws are more often affected from the bones.

Differential diagnosis

First, it is necessary to conduct differential diagnosis between the usual, most common polyps - adenomatous, granulomatous, etc., on the one hand, and various forms of multiple hereditary polyposis that affects 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 with this or that form of hereditary polyposis, with concomitant changes in the skin, soft tissues, bones, characteristic of certain forms. Thirdly, it is necessary to take into account the data of the hereditary history (the presence of some form of hereditary polyposis, colon cancer in one or more family members).

[1], [2], [3]

Treatment of Gardner's Syndrome

The treatment of Gardner's syndrome is surgical, given the extremely high risk of developing colorectal cancer. JQ Stauffer (1970) and others recommend the prophylactic conduct of total colectomy (removal of the large intestine) with ileostomy or impose ileorektalny anastomosis (in cases when the rectoscopy did not reveal polyps in the rectum). Considering that malignancy of polyps occurs in most cases a little later than with hereditary family juvenile polyposis, this preventive operation can be carried out after reaching patients 20-25 years of age. In case of refusal from the operation, compulsory dispensary observation of the patient with colonoscopy is necessary at least once every 6-8 months. At the decision of parents, in the family of which in the past there was at least one case of multiple hereditary polyposis, to have a child it is necessary to have medical genetic counseling. In case of complications of polyposis with intestinal bleeding, intussusception or obturation (polypus) obstruction of the colon - urgent hospitalization in the surgical department and, as a rule, surgical treatment (if there are no serious contraindications).