Familial Adenomatous Polyposis (FAP)
Familial adenomatous polyposis (FAP) is characterized by multiple polyps in the colon and rectum. The polyps that occur are precancerous lesions and are very easy to develop into cancer. It usually occurs in young people. Generally, clinical symptoms begin to appear during adolescence at the age of 15 to 25, and the most obvious symptoms are around 30.
There are two types of typical FAP and light FAP. A typical FAP is characterized by a large number of polypoid adenomas, usually thousands of them, all over the colon. Mild FAP is characterized by fewer colonic polyps, usually less than one hundred. Polyps are often flattened and often distributed in the right colon. Ninety-five percent of family members develop colonic adenoma at an average of 35 years old, and most members develop cancer around 40 years old. 80% of patients also have small bowel adenomas, 5-10% have small bowel adenocarcinomas, and 50% have gastric polyps. There are also some patients with combined parenteral diseases, such as: thyroid tumors, abdominal desmoid tumors, osteomas, epidermoid cysts and hepatoblastomas, as well as combined natural retinal pigment epithelial hyperplasia, soft tissue tumors, bone tumors and teeth Dysplasia and central nervous system tumors.
FAP is caused by a mutation in the adenomatous polyposis of the colon (APC) gene, which is located at 5q21-22 and is a tumor suppressor gene with many mutations. The most common APC gene mutation is a change in the gene sequence that causes the stop code to appear early, resulting in a non-functional truncated protein. More than 80% of FAP patients can detect mutations in the APC gene, but about 20% of patients fail to find APC gene mutations using existing genetic testing techniques.
four. Pathological features
The clinicopathological characteristics of FAP are mainly manifested as gastrointestinal symptoms only after the growth of intestinal polyps, so patients usually show symptoms when they are around 15-25 years old. The common symptoms are dull abdominal pain, diarrhea, mucus blood in the stool or a small amount of blood in the stool, occasionally a large amount of blood in the stool, the blood in the stool is mostly intermittent, and a feeling of falling in the anus, which is often misdiagnosed as internal hemorrhoids or chronic colitis. Polyps gradually increase and increase, and the above symptoms are aggravated. Individual patients have symptoms of intussusception, such as abdominal pain, bloating, nausea, vomiting, etc. due to large polyps. Some intussusception can be reset by itself and the symptoms can be relieved, but intussusception can occur repeatedly. Due to long-term diarrhea, mucus and blood in the stool, patients may develop anemia, fatigue, and hypoproteinemia.
V. Canceration rate
The larger the polyp, the more chance of cancer. If an adenoma is found in the initial examination, all patients who are confirmed to be adenoma should be followed up for colonoscopy after 3 years. If the first follow-up examination is normal or a single small tubular adenoma is found, the next follow-up examination can be extended to 5 years later; on the contrary, if the polyps are large in size and large in number, the interval between examinations should be shortened.
six. Auxiliary examination
1. Digital anus examination can palpate multiple grape cluster-like size polyps.
2. Upper gastrointestinal barium meal examination to detect upper gastrointestinal polyps and deal with it
3. Colonoscopy is the easiest way to prevent colorectal cancer and improve the effect of colorectal cancer treatment. Multiple adenomatous polyps can be seen, and normal mucosa is difficult to see. Polyps only affect the large intestine. Not only can the size, distribution and morphology of polyps be clarified, but also the nature of polyps can be clarified by biopsy. Under endoscopy, large intestinal polyps can be seen as large as soybeans, that is, ≤12.5px. Hemispherical or broad basal. It is difficult to see the normal mucosa in the intestinal segment where polyps are densely distributed. Between small polyps, short pedicle or broad basal pedicle polyps of> 25px can often be seen. They are lobulated or villous, often There are hyperemia, edema, erosion, and bleeding. Most small polyps have no congestion or edema. The distribution of polyps is most in the rectum, followed by the sigmoid colon, descending colon, and transverse colon. People with some of the following symptoms or conditions need colonoscopy:
a Patients with unexplained blood in the stool, especially dark red blood in the stool or blood clots;
b Atypical abdominal pain;
c Unexplained diarrhea, pus and blood in the stool;
d Unexplained constipation;
e People who have a family history of tumor and are over 35 years old;
f For patients in a family with familial polyposis (FAP), regular colonoscopy follow-up is required after the age of 10;
g Complies with people over 18 years old in the family of hereditary non-polyposis colorectal cancer (HNPCC);
h Those who have no symptoms and are over 45 years old need to undergo the first colonoscopy. If there is no abnormality, they need to undergo colonoscopy every 3-5 years; if colon polyps are found, follow-up follow-up methods for colon polyps are required.
4. Fecal occult blood test Fecal occult blood and mucus blood in the stool are one of the characteristics of early colorectal cancer, but this method has a high false positive rate, and not all colorectal cancers have bleeding.
5. In fundoscopy, more than 80-95% of FAP patients can see congenital hypertrophy of retinal pigment epithelium (CHRPE), and the fundus of both eyes can be seen, that is, there is an oval flat on the retina. The lesions with pigment changes on the border are mostly translucent halos, generally more than 4, which is a specific manifestation of FAP. As a sign, doubters can find clues to the disease through eye examination (fundoscopy). Because this disease has family accumulation, if one person in the family is diagnosed, other members should undergo related examinations (including fundus examinations). This method is a highly sensitive and specific FAP-assisted diagnosis, and is a safe and effective method for screening family members.
1. Surgery: Due to the large number of adenomas in FAP patients, it is impossible to remove the adenomas one by one through colonoscopy, and 100% of the patients will eventually turn into colorectal cancer. Therefore, surgical removal of the entire colon is to prevent adenomas in FAP patients The only means of cancer.
A. Total colectomy, ileum and rectal anastomosis: This procedure is suitable for patients with fewer polyps, especially rectal polyps.
B. Total colorectal resection: Perform total colorectal resection, with special emphasis on the removal of all rectal mucosa. Any remaining rectal mucosa may be the cause of postoperative polyps and colorectal cancer.
C. Ileum and anal anastomosis (IAA), patients undergoing this operation have very poor bowel control ability. Most patients have a dozen to dozens of bowel movements per day. Some patients have to switch to ileostomy because they cannot tolerate frequent bowel movements. Oral surgery, this surgery is currently less used in FAP patients.
D. The ileal storage bag and anal canal anastomosis (IPAA) is currently the most commonly used surgical method in clinical practice, but it should be used with caution in patients who have undergone cancer, especially those who have cancer of rectal polyps.
2. Drug therapy: NSAID drugs such as sulindac: a non-steroidal anti-inflammatory drug is related to the regression of colon polyps. Oral sulindac (150-200 mg/d) can reduce the size and number of intestinal polyps, and significantly reduce cell proliferation indicators. Studies have shown that sulindac promotes polyp resolution by inhibiting cyclooxygenase-2 (COX-2) and inhibiting prostaglandin synthesis. Sulindac can also inhibit the proliferation of cancer cells and increase the apoptosis of mucosal epithelial cells. Other medicines: aspirin, pyrrolidine, and indomethacin. Xilebao etc.
Nursing diagnosis: 1 Anxiety: fear of cancer, surgery, lack of knowledge about diseases.
2 Pain: It is related to the surgical incision and the nerve irritation caused by cancer.
3 Malnutrition is lower than the body's requirement: it is related to fasting during operation and cancer consumption.
4 Cooperation problems: water and electrolyte disorders: related to fasting after surgery.
5 Hyperthermia: It is related to postoperative infection and anastomotic leakage.
6 Self-image disorder: related to colostomy.
7 Restricted self-care: related to the establishment of the stoma.
Preoperative care: 1. Diet: 3 days before the operation, no residue and half flow, 1 day before the operation, a liquid diet.
2Intestinal preparation: Orally take 2 boxes of Hengkang Zhengqing one day before the operation, and there is no residue in the stool. Fasting before and after dinner and water for 6 hours.
3 Skin preparation: the nipple connects to the pubic symphysis, and the two crunches reach the mid-axillary line
4 Practice the method of urinating and urinating on bed and coughing effectively before operation.
5 Inform the patient about the benefits of the postoperative semi-recumbent position, the protection of the wound when coughing, the protection of the drainage tube and the observation of the wound.
6 Psychological nursing: The patient with a stoma can introduce the part, function and nursing knowledge of the stoma through pictures, models, and food, and explain its meaning and necessity.
7 Before sending to the operating room, insert the stomach tube, wear clothes upside down, and remove all dentures and jewelry.
Postoperative care: 1 Go to the pillow to supine 6 hours after the operation, and then take the semi-recumbent position (conducive to breathing and drainage). Fasting after surgery until the gastric tube is removed.
2 Observe vital signs closely and record them every hour. Pay attention to the observation of postoperative complications. If there is bleeding, look at the changes in vital signs such as drainage fluid volume, color, traits, and blood pressure.
3 Nursing of various drainage tubes: gastric tube, presacral negative pressure, drainage tube, jejunum tube, abdominal drainage tube, keep the tube fixed, unobstructed, sterile operation, observe and record the drainage fluid volume, color, and character.
4 Observe that the wound dressing is dry and exuded and replaced in time.
5 Indwelling catheterization: Wash the urethral opening with potassium permanganate solution twice a day, pay special attention to the observation of urine color within 24 hours after surgery. The bladder can be extubated after the bladder function recovers after the clamp training.
6 Fasting: After 3-5 days after the operation, you can enter a liquid diet after anal exhaustion without abdominal distension. After no discomfort, you can enter a low-residue diet. Later, enter a high-calorie, high-protein, and high-vitamin diet. Avoid greasy and unhygienic foods to prevent diarrhea.
Human anal bag care: 1 protect the privacy of the patient, understand the psychological changes of the patient, encourage and care for the patient.
2 Observe the condition of the stoma before opening the stoma, and apply externally with vaseline gauze or saline gauze. Change the dressing when it is soaked to prevent infection. Pay attention to observe whether the intestinal segment has retraction, bleeding, necrosis, and stenosis.
3 Protect the incision of the abdominal wall. The stoma is usually opened 2-3 days after the operation, and the lateral position is used to facilitate the eduction. Wash the skin around the stoma with neutral soap and apply zinc oxide ointment to prevent skin rashes.
4 Use the human anal bag correctly. Dispose of it when it is one-third full, and continue to use it after cleaning.
5 Dietary guidelines, light and easy to digest, not too thin, avoid gas-producing food, moderate fiber diet, prevent constipation.
Complications and care: 1 necrosis 2 stenosis 3 artificial anus colon prolapse 4 artificial anal hernia 5 anastomotic fistula
1 Observe the color of the intestine, whether it is black or purple.
2 After the stoma is removed and healed, the anus is expanded twice a day to observe whether there is intestinal obstruction (pain, vomiting, swelling, closing).
3 If you have unresolved stool after 3-4 days of eating, you can enema with paraffin oil or soapy water at low pressure, and insert a catheter less than 10cm.
4 Body temperature, drainage fluid color, and peritoneal irritation during anastomotic fistula. The colostomy is continuously flushed with normal saline.
Discharge guidance: 1. After discharge, expand the anus once a day for 2-3 months. If there is obstruction, come to the hospital in time. Avoid labor that increases intra-abdominal pressure within 3 months, such as mopping the floor and holding a child.
2 Diet guidance, light and easy to digest, not too thin, avoid eating cold, greasy food, moderate fiber diet, prevent constipation.
3 Regular visits to the hospital for review, carcinoembryonic antigen, colonoscopy.
4 Exercise properly to keep a good mood, suggest that patients join the stoma association and exchange experience with each other
5 Chemotherapy patients should check the blood picture every week to avoid colds. If the patients experience weight loss, pain in the sacrum, rapid swelling of the perineum, rapid abdominal swelling, and liver enlargement, they should come to the hospital in time.