Familial polyposis, also known as familial adenomatous polyposis (FAP), is a rare genetic disease. This disease is an autosomal dominant genetic disease, but not a congenital disease. There are no polyps in the intestines at birth, and they often appear gradually during adolescence. The patient’s children have a 50% chance of getting the disease. Without intervention, the adenomatous polyps of different sizes in the entire large intestine will eventually become malignant, with serious consequences.
1. Clinical manifestations
1. Intestinal symptoms Clinically, polyposis can be divided into three stages, namely, preclinical stage, adenoma stage and cancer stage. The adenoma stage can be divided into the occult stage and the symptomatic stage. There are no symptoms in the pre-clinical stage and the hidden stage of adenoma, just like ordinary people. The symptomatic stage of adenoma is mainly manifested as abdominal pain, diarrhea, mucous stools, bloody stools, anal swelling, etc. As the polyp gradually grows, the above symptoms may increase, and even severe abdominal pain, bloating, vomiting and other intussusception , Performance of intestinal obstruction. After the polyp becomes cancerous, the patient's stool frequency increases, abdominal pain, bloody stools, mucous bloody stools, etc. are further aggravated, and tumor wasting manifestations such as weight loss and fatigue appear.
2. Extra-intestinal manifestations
(1) Gardner syndrome: Approximately 1/4 to 1/3 of patients have extraintestinal manifestations, which can be manifested in any of the following conditions: ① skin cystic lesions; ② bone tumors; ③ fibrous tissue tumors; ④ stomach twelve Digital polyps; ⑤ duodenal or peripheral cancer of the abdomen; ⑥ papillary thyroid carcinoma; ⑦ congenital retinal pigment epithelial hypertrophy (CHRPE), as a sign of polyposis, its predictive value reaches 100%; ⑧ tooth deformity
(2) Turcot syndrome: When patients with familial adenomatous polyposis are accompanied by central nervous system malignancies, it is called Turcot syndrome. Although it is not a brain metastasis of colorectal cancer, the prognosis is still poor.
1. Diagnostic criteria The diagnosis of familial adenomatous polyposis must meet one of the following conditions: ①The number of adenomas>100; ②Patients with genetic predisposition (family history), those with adenomas>20
2. Diagnostic methods The main method of diagnosing familial adenomatous polyposis is colonoscopy. For polyps found under colonoscopy, especially those suspected of malignant transformation, histological examination should be done to determine their nature. In view of the high diagnostic sensitivity and specificity of CHRPE, ophthalmoscope examination is now routinely listed as an auxiliary examination for first-generation relatives who have not suffered from the disease in clinical practice. In addition, since Bodmer et al. discovered the FAP mutant gene in 1987, FAP gene carriers can now be found with linked gene markers.
If familial adenomatous polyposis is not treated in time, it will eventually become cancerous, and surgical resection is the only effective treatment. The average age of symptoms of the disease is 20 years old, and the average age when cancer is found is 35-40 years old. Cancer is rare around 20 years old. Therefore, the ideal operation time is before 20 years old, and those over 14-15 years old will be diagnosed. , Should be operated immediately.
Familial polyposis is an autosomal dominant genetic disease that cannot be prevented, but it does not need to be mentioned. The incidence is low, about 0.01%. The disease can completely prevent cancer after examination. It is recommended that people with a history of colorectal cancer in the family undergo genetic screening, regular colonoscopy for genetic mutation carriers, usually once every 1-3 years, and non-mutation carriers for general population screening, that is, stool occult blood In the trial, colonoscopy was performed for the first time after the age of 45. In particular, people with a family history of intestinal tumors should be taken seriously, and gastrointestinal endoscopy should be performed as soon as possible to determine whether there are multiple polyps in the stomach and large intestine, and timely treatment after a clear diagnosis.
(1) Surgical diagnosis and treatment of colorectal cancer.
(2) Surgical diagnosis and treatment of anal diseases such as hemorrhoids, anal fissures, anal fistulas, and anal injuries.
(3) Surgery diagnosis and treatment of rectal diseases such as rectal prolapse, rectal injury, rectal-vaginal fistula, rectal-vesical fistula, vesicovaginal fistula, rectal stenosis, etc.
(4) Surgical diagnosis and treatment of colorectal diseases such as familial colorectal polyposis, colitis and venereal diseases.
(5) Surgical diagnosis and treatment of other diseases such as constipation, parastoma hernia, abdominal wall tumor, and hidden hair sinus.
(1) Anus preservation surgery for rectal cancer
①For rectal cancer above 6cm from the anus (within T3): take the lead in developing laparoscopic double anastomosis with thoracoscopic oval forceps or nylon band rectalwashout technology to prevent anastomotic recurrence.
②For rectal cancer 5~6cm away from the anus (within T3): the first mature laparoscopic free colonic splenic flexure modified Bacon operation, that is, retaining the internal and external sphincter of the anus, and colon pulling out through the anus.
③For rectal cancer 2~5cm away from the anus (within T2): the first mature laparoscopic free colon splenic flexure modified ISR, that is, preservation of the external anal sphincter and colon transanal extension.
④For anastomotic fistula, rectal-vaginal fistula, anastomotic stenosis after rectal cancer anus preservation operation: take the lead in carrying out another anus preservation operation.
(2) Repair of rectovaginal fistula
①For lower rectal-vaginal fistula: take the lead in developing tension-free repair through perineal incision.
②For refractory or complex rectal-vaginal fistulas: take the lead in developing laparoscopic or open modified Bacon surgery, that is, retaining the internal and external sphincter of the anus and pulling the colon out through the anus.
(3) Anal sphincter repair
For the anal sphincter injury: take the lead in the mature gluteal muscle transplantation to strengthen the anal sphincter.