Gardner syndrome is a hereditary disease accompanied by polyposis of the large intestine in combination with benign neoplasia of the skin, bones and soft tissues. It can be asymptomatic for a long time. Bloating, rumbling and stool disorders are possible. In some cases, intestinal polyposis is complicated by bleeding or intestinal obstruction. There is a high probability of developing colorectal cancer. The disease is diagnosed on the basis of complaints, family history, examination data, radiography, CT, MRI, ultrasound, endoscopy and other studies. Treatment – endoscopic polypectomy or resection of the affected parts of the intestine.
Gardner syndrome is a rare genetically determined pathology in which diffuse polyposis of the large intestine is observed in combination with benign tumors of bones and soft tissues (osteomas, fibroids, neurofibromas, epithelial cysts and other neoplasms). Polyposis in Gardner syndrome mainly affects the rectum and sigmoid colon, but polyps can be detected in other parts of the intestine. It was first described by the American physician and geneticist E. J. Gardner in 1951. Since then, there have been mentions of more than a hundred cases of this disease in the specialized literature. The risk of malignancy of colon polyps with the development of colorectal cancer during life is about 95%. The treatment is carried out by specialists in the field of clinical proctology, gastroenterology, oncology, orthopedics, dentistry and maxillofacial surgery.
Gardner syndrome is transmitted by an autosomal dominant type. The severity of intestinal and extra-intestinal clinical manifestations can vary greatly. The first symptoms of Gardner syndrome usually appear in children over the age of 10. It may begin later with the formation of the first tumors at the age of over 20 years. In some cases, along with polyposis of the large intestine, osteomas and soft tissue neoplasms, polyps of the small intestine, stomach and duodenum are found in patients with Gardner syndrome.
Gardner syndrome includes a characteristic triad: diffuse polyposis of the lower colon, osteomas of flat and tubular bones, various benign tumors of the skin and soft tissues. With a moderate number and small size of polyps, intestinal manifestations of Gardner syndrome may be absent or weakly expressed. In adolescence or adolescence, patients usually turn to doctors for the first time due to the appearance of benign bone and soft tissue tumors.
Osteomas with Gardner syndrome can be localized in both flat and tubular bones. Often there is a lesion of the bones of the facial skull, accompanied by disfigurement. Possible displacement and even loss of teeth. After some time after the appearance of osteoma growth in patients with Gardner syndrome stops, tumors do not become malignant. Soft tissue neoplasia is very diverse. Lipoma, dermatofibroma, neurofibromas and epithelial cysts are especially often detected. Atheroma, leiomyomas and other neoplasms are less common. Soft tissue tumors with Gardner syndrome also proceed benign, there is no malignancy.
Colon polyps with Gardner syndrome often become an accidental find when conducting gastrointestinal studies for other reasons or are detected during an extended examination prescribed in connection with the appearance of multiple soft tissue and bone neoplasia. During Gardner syndrome, three stages of intestinal damage can be distinguished. At the first stage, the disease is asymptomatic. On the second, patients note abdominal discomfort, bloating, rumbling and periodic stool disorders. Impurities of blood and mucus may be detected in the feces.
At the third stage, patients with Gardner syndrome have severe pain syndrome, constant flatulence, abundant impurities of mucus and blood in the stool, weight loss, increased fatigue, emotional lability, electrolyte and protein metabolism disorders. Many patients with Gardner syndrome develop anemia due to small volume, but often recurring bleeding from the lower gastrointestinal tract. In some cases, patients develop urgent conditions that require emergency medical care – copious intestinal bleeding or intestinal obstruction.
The diagnosis is established on the basis of a family history (the presence of Gardner syndrome in close relatives), a clinical picture that includes a characteristic triad, and data from additional studies. During a physical examination, the doctor notes the presence of multiple bone and soft tissue tumors of various localization. In some patients with Gardner syndrome, facial deformities caused by osteomas of the facial skull are detected. When palpating the bones of the trunk and limbs, tumor-like formations of bone density can be detected. With mild lesions, the number of neoplasms may be insignificant, which makes diagnosis difficult.
When palpating the abdomen, soreness is observed in the left iliac region. At the first stage of intestinal damage, this symptom may be absent. When conducting a finger rectal examination on the rectal mucosa of patients, multiple nodes are found. On contrast X-rays, such nodes are displayed as filling defects. With nodes of small size (less than 1 cm), the informative value of contrast X-ray examination decreases. During rectoromanoscopy, polyps are detected in the rectum and colon. The number of polyps can vary greatly.
Some patients have limited lesions of certain areas of the intestine. Unlike radiography, endoscopic examination makes it possible to diagnose polyps of any size, including small ones (with a diameter of 1-2 mm). To clarify the nature and prevalence of bone tumors in Gardner syndrome, radiography is performed. With soft tissue neoplasms, CT, MRI or ultrasound of the affected area is prescribed. If necessary, a biopsy of polyps, osteomas and soft tissue neoplasms is performed.
Differential diagnosis is performed by proctologists with common multiple polyps and other forms of familial polyposis. Different variants of hereditary polyposis are characterized by certain differences in the predominant localization of polyps (damage to the entire colon, damage to the distal parts of the colon), the nature of pathological changes in bones and soft tissues. To clarify these differences, before making a final diagnosis, a detailed external examination is performed, irrigoscopy and colonoscopy are performed.
Treatment is only surgical. Since there is no risk of malignancy of bone and soft-tissue neoplasia, the decision to perform surgical interventions is made in the presence of a cosmetic or functional defect. Polyposis of the large intestine in Gardner syndrome is considered as an obligate precancer, so many doctors consider it advisable to perform surgery before the appearance of signs of malignancy. With a small number of polyps, endoscopic polypectomy is possible.
In Gardner syndrome with pronounced diffuse polyposis, resection of the affected part of the intestine or total colectomy with the imposition of an ileostomy or the formation of an ileorectal anastomosis (in the absence of rectal polyps) is indicated. Surgical intervention is recommended at the age of 20-25 years. Due to the crippling nature of the operation, young patients with Gardner syndrome often refuse this intervention. In such cases, dynamic observation with colonoscopy is indicated every 6-8 months.
Some doctors are supporters of wait-and-see tactics and believe that colectomy for Gardner syndrome should be performed only when signs of malignancy appear or with frequent bleeding with the development of anemia. Indications for emergency surgery are profuse intestinal bleeding and intestinal obstruction.
Prognosis and prevention
With timely adequate treatment, the prognosis for Gardner syndrome is quite favorable. The severity of the course is determined by the severity of polyposis and localization of extra-intestinal tumors. Parents who have relatives suffering from this disease are recommended to seek medical and genetic advice during pregnancy planning.