Gardner syndrome

　　Gardner syndrome is an autosomal dominant genetic disease caused by a single defective gene or several independent but closely related genes. The pathogenesis has not been reported clearly, and the mechanism is unclear.

　　Common complications of Gardner syndrome include gastrointestinal bleeding, infection, intussusception, canceration, and thrombosis, etc.

　　1, Gastrointestinal bleeding: The clinical manifestations depend on the nature, location, amount, and speed of bleeding, and are also related to the patient's age, heart and kidney function, and other systemic conditions.

　　2, Infection: It is an inflammatory response of local tissues and the whole body caused by pathogenic agents such as bacteria, viruses, fungi, parasites, and other pathogens entering the human body.

　　3. Intussusception: A segment of the intestine is inserted into the lumen of the connected intestinal cavity, causing obstruction of the intestinal contents.

　　4. Malignancy: Due to infection, ischemia, and other stimuli, there is a possibility of malignancy.

　　5. Thrombosis: When arterial thrombosis occurs, it is easy to cause insufficient blood supply, leading to intestinal necrosis.

　　The clinical symptoms of Gardner syndrome are mainly manifested in two aspects: gastrointestinal polyps and extra-intestinal lesions.

　　1. Gastrointestinal polyps

　　Polyps are widely distributed throughout the colon, with a number of more than 100; the stomach and duodenum are also common, but the jejunum and ileum are less common. Polyps can exist for many years without causing symptoms. Symptoms usually appear in young and middle-aged adults. Initially, they may only have loose stools and increased frequency of defecation, which are easily ignored by patients; when severe diarrhea and large amounts of mucous bloody stools occur, patients pay attention to it, but at this time, the polyps have often occurred malignant transformation.

　　2. Extra-intestinal lesions

　　(1) Osteomas

　　Most osteomas in this syndrome are benign, ranging from mild cortical thickening to extensive bone hyperplasia, even giant osteomas with pedicles can be seen, mostly occurring in the skull, maxilla, and mandible, and also in long bones of the limbs. There are also dental anomalies such as supernumerary teeth, impacted teeth, odontogenic cysts, and odontogenic tumors. Abnormalities in osteomas and teeth often occur before colorectal polyps.

　　(2) Soft tissue tumors

　　Multiple sebaceous cysts or dermoid cysts and fibrous tumors are also seen, as well as lipomas and smooth muscle tumors. Epithelioid cysts are commonly found on the face, limbs, and trunk, and are characteristic manifestations of this syndrome. They are often seen in childhood. This feature is very important for the early diagnosis of this syndrome. Fibromas are often subcutaneous, presenting as nodules or masses, and some are associated with fibrosarcoma. Desmoid tumors usually occur on the extraperitoneal wall, abdominal wall, and intra-abdominal cavity, and are more common at surgical incisions and on the mesentery. It is difficult to differentiate from colorectal cancer, and recurrence is easy after resection, and sometimes it can lead to stricture of the ureter and intestines.

　　(3) Associated with tumor transformation

　　Such as thyroid tumors, adrenal tumors, and adrenal cancer, etc. Compared with familial colorectal polyposis, there are no characteristic manifestations.

　　It must be noted that: there are still some atypical patients in clinical practice, some of whom have only polyps without extraintestinal lesions, while others have only extraintestinal lesions without polyps.

　　Gardner syndrome, also known as hereditary intestinal polyp syndrome, is a dominant chromosomal inherited disease with a family history, difficult to prevent. Prenatal genetic disease screening and eugenic breeding are the preventive measures for this disease.

　　Patients with Gardner syndrome who have three major features of multiple colorectal polyps, osteomas, and soft tissue tumors can be diagnosed, and can also be diagnosed by the following examinations:

　　1. X-ray examination

　　For those suspected of having osteoma or abnormal hyperplasia of bone, an anteroposterior and lateral radiograph should be taken to determine the presence of cortical thickening or bone hyperplasia. Double-contrast barium meal and barium enema are both helpful in detecting suspicious polyps in the gastrointestinal tract.

　　2. Endoscopic examination

　　It is best to perform a colonoscopy. For patients suspected of having gastric polyps or other gastric lesions, consider a gastroscopy.

　　3. Stool examination

　　Stool steroidal gas chromatography and anaerobic bacterial culture can show that the concentration of stool cholesterol and primary bile acids in patients with this condition is high. This is related to the relative increase of fusobacteria and Bifidobacterium in the intestines.

　　Gardner syndrome patients should avoid spicy foods, as spicy foods can stimulate the gastrointestinal tract and increase the workload of blood vessels. Malnutrition and undernutrition are common in Gardner syndrome patients. Therefore, increasing appetite and strengthening nutrition is very important for the recovery of patients.

　　Diet should be diversified, with an emphasis on high-protein, high-vitamin, low-animal-fat, easily digestible foods, as well as fresh fruits and vegetables. Avoid eating stale, deteriorated, or刺激性 foods, and eat less smoked, roasted, pickled, fried, or overly salty foods. The staple food should be a mix of coarse and fine grains to ensure a balanced diet.

　　In terms of diet, it is also necessary to maintain regularity and rationality, that is, to consume high-protein, high-vitamin foods as the mainstay. Choose high-nutrient plant or animal proteins such as milk, eggs, fish, lean meat, and various bean products. Various fresh vegetables and fruits are rich in vitamins and have high nutritional value.

　　Patients with severe Gardner syndrome need to undergo early surgical treatment, including total colectomy and permanent ileostomy, colectomy and ileorectal anastomosis, but the indications for surgery must be strictly controlled.

　　The treatment for extragastrintestinal lesions can vary from case to case. Some patients can be followed up and observed, while others may require surgery. The treatment for desmoid tumors, although it can be completely resected and cured, is sometimes difficult due to the diffuse infiltrative growth of tumor cells, and recurrence is inevitable if any remain. For those that cannot be completely resected, radiotherapy or non-hormonal anti-inflammatory drugs can be administered. Patients with this condition should maintain lifelong contact and cooperation with doctors, and patients over 40 years old must undergo regular physical examinations, including physical examinations and rectaloscopy.