Familial adenomatous polyposis (FAP) is an hereditary autosomal dominant disease characterized by development of hundreds to thousands of adenomatous polyps in the colon and rectum. The common symptoms are bloody stool, diarrhea, and abdominal pain. The average age at onset of symptoms is 33 years. Because of inevitable progression to malignancy, it is necessary to remove the entire colonic and rectal mucosa. Current surgical options are total proctocolectomy with permanent ileostomy, trans-abdominal colectomy with ileorectal anastomosis (IRA), and restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA). Recently IPAA can give optimum control of colorectal polyposis in FAP patients with an acceptable incidence of postoperative complications and satisfactory functional results. We experienced one case of FAP who had malignacy in the remained rectum after subtotal colectomy. IPAA was done and the result was satisfactory.
Abdominal Pain ; Adenomatous Polyposis Coli* ; Adenomatous Polyps ; Colectomy* ; Colon ; Diarrhea ; Humans ; Ileostomy ; Incidence ; Mucous Membrane ; Postoperative Complications ; Proctocolectomy, Restorative ; Rectum*

Familial adenomatous poliposis is autosomal, predominantly inherited, premalignant disease, which is caused by a mutation in adenomatous poliposis coli gene in chromosome 5q21. Intestinal transplantation is an evolving procedure and has become a lifesaving procedure for pediatrics and adults with intestinal failure who cannot be managed by conventional therapies. Long-term outcome and cost effectiveness continue to improve and will be comparable to those of total parenteral nutrition. The short gut syndrome is the most common indication. Pancreas transplantation, as a solid organ, vascularized graft, has im proved the quality of life for diabetic patients by establishing an insulin-independent, constant normo glycemic state and is a well-established treatment for patients with insulin-dependent diabetes. The bene ficial effect is the maintenance of normoglycemia and possibly the reversal of diabetic complications, such as vasculopathy, neuropathy, and nephropathy. We report a case of pancreas-intestinal transplantation in a familial adenomatous polyposis patient along with a review of the literature.
Adenomatous Polyposis Coli* ; Adult ; Cost-Benefit Analysis ; Diabetes Complications ; Humans ; Pancreas Transplantation ; Parenteral Nutrition, Total ; Pediatrics ; Quality of Life ; Transplants

PURPOSE: Restorative proctocolectomy (RP) is a standard surgery in patients with ulcerative colitis and familial adenomatous polyposis. Usually, diverting ileostomy is performed to protect an ileoanal anastomosis with RP. However, there are many controversies whether diverting ileostomy might urgently be needed. This study was performed to compare postoperative complications after RP with or without diverting ileostomy. METHODS: Between July 1994 and June 2001, 77 (M : F= 45 : 32) patients underwent RP. The indication criteria for diverting ileostomy included tension at the anastomosis, positive leakage test, compromised blood flow in the ileal pouch, long-term and high-dose steroid use, and severe rectal inflammation in ulcerative colitis patients. RESULTS: Histopathologic diagnoses revealed 45 ulcerative colitis, 23 familial adenomatous polyposis, 5 rectal cancer, and 4 hereditary nonpolyposis colorectal cancer. Diverting ileostomies were performed in 40 patients (51.9%) and closed approximately 4 months later. Fourty eight complications were present in 32 patients. There was no perioperative death. There was no difference in perioperative outcome, morbidity or functional status between patients with and without ileostomy. However, in ulcerative colitis patients, anastomosis leakage was more frequent in patients without ileostomy. CONCLUSIONS: Restorative proctocolectomy can be safely performed without diverting ileostomy in most cases of RP. However, diverting ileostomy may reduce anastomosis leakage in patients with ulcerative colitis.
Adenomatous Polyposis Coli ; Colitis, Ulcerative ; Colorectal Neoplasms, Hereditary Nonpolyposis ; Diagnosis ; Humans ; Ileostomy* ; Inflammation ; Postoperative Complications ; Proctocolectomy, Restorative* ; Rectal Neoplasms

BACKGROUND/AIMS: Pouchitis is one of the most common and debilitating complications of a restorative proctocolectomy. We aimed to analyze the features of pouchitis after restorative proctocolecomy and to determine the risk factors related to its development. METHODS: A study was undertaken in 169 patients who underwent total proctocolectomy with ileal pouch-anal anastomosis between July 1989 and December 2003. Pouchitis was defined as change of bowel habit, change in stool consistency, hematochezia or abdominal pain, febrile sensation and/or low-grade fever improved by metronidazole or ciprofloxacin without evidence of infectious disease and sphincter damage. RESULTS: Among the 169 patients, patients with ulcerative colitis were 64, familial and attenuated adenomatous polyposis 44, Crohn's disease 2, and synchronous or hereditary non-polyposis colorectal cancer were 59 cases. Overall, pouchitis occurred in 15.9% of the patients. The incidence was 37.5% in ulcerative colitis, 1% in non-ulcerative colitis, and 50% in Crohn's disease. In ulcerative colitis group, most of the pouchitis (60.9%) occurred within 6 months after the operation and the remainder experienced the first attack within 1 year after operation. Three patients progressed to chronic pouchitis. There was no association between pouchitis rate and sex, history of smoking, steroid use, temporary ileostomy construction, involvement of appendix or proximal colon, and evidence of indeterminate colitis. Only age was significantly related to the occurrence of pouchitis. CONCLUSIONS: Pouchitis developed exclusively in ulcerative colitis than other disease groups. Pouchitis occurred most frequently within 6 months after the operation, therefore, it is important to investigate carefully during one year after the operation in patients with ulcerative colitis.
Adenomatous Polyposis Coli/complications ; Adult ; Colitis, Ulcerative/complications ; Colorectal Neoplasms/complications ; Crohn Disease/complications ; English Abstract ; Female ; Humans ; Male ; Middle Aged ; Pouchitis/*etiology ; Risk Factors

PURPOSE: A restorative proctocolectomy has been accepted as the operation of choice for ulcerative colitis and familial adenomatous polyposis. The purpose of this study was to assess the postoperative complications and functional outcomes following a total proctocolectomy with a J ileal pouch-anal anastomosis. METHODS: The medical records of 12 patients who had undergone a total proctocolectomy, with a J ileal pouch-anal anastomosis, between January 1997 and June 2002, were retrospectively reviewed according to sex, age, underlying disease and postoperative complications. We evaluated the functional outcomes using medical record reviews and patients and telephone interviews. RESULTS: Total proctocolectomy, with a J ileal pouch-anal anastomosis, were done for ulcerative colitis (n=2) and familial adenomatous polyposis (n=10). A diverting ileostomy was performed in 8 patients. Postoperative complications occurred in 7 patients (58%), intestinal obstructions in 4 and complications related with anastomosis in 3, i.e. J ileal pouch leakage (n=2) and ileal pouch-vaginal fistula (n=1). Re-operations, due to postoperative complications, were performed in 4 patients, i.e. small bowel segmental resection (n=1), adhesiolysis (n=1), diverting ileostomy (n=1) and ileal pouch resection & reconstruction (n=1). The daily median defecation frequencies were 7.7 (range 4~20) a month after the operation, 5.4 (3~12) at 2~3 months, 4.5 (3~7) at 6 months and 4.1 (3~5) at 12 months, following the operation. Two patients had gas incontinence, 1 had fluid incontinence, 4 had night soiling and 3 needed pads, but these incontinences, the need for anti-diarrhea medication and the use of pads, all improved within 6 months of the operation. Fluid incontinence and the use of pads improved within 3 months of the operation, gas incontinence and night soiling improved within 6 months of the operation. The mean length of follow-up was 30.6 months. CONCLUSIONS: The postoperative complication rate was 58%. Thirty-three percent of patients had fecal incontinence, but all these improved within 6 months. The long- term functional outcomes, after a total proctocolectomy with J ileal pouch-anal anastomosis, were satisfactory, and the postoperative complications acceptable. The postoperative complication rates were no different between the protective diverting ileostomy and non-ileostomy .
Adenomatous Polyposis Coli ; Colitis, Ulcerative ; Defecation ; Fecal Incontinence ; Fistula ; Follow-Up Studies ; Humans ; Ileostomy ; Interviews as Topic ; Intestinal Obstruction ; Medical Records ; Postoperative Complications ; Proctocolectomy, Restorative ; Retrospective Studies ; Soil

Restorative proctocolectomy with ileal pouch-anal anastomosis is one of the surgical treatments of choice for patients with familial adenomatous polyposis. Although the risk of cancer developing in an ileal pouch is not yet clear, a few cases of adenocarcinoma arising in an ileal pouch have been reported. We report a case of adenocarcinoma in ileal pouch after proctocolectomy with ileal pouch-anal anastomosis. A 56-yr-old woman was diagnosed as having familial adenomatous polyposis. Total colectomy with ileorectal anastomosis was performed. Six years later, she underwent completion-proctectomy with ileal J pouch-anal anastomosis including anorectal mucosectomy for rectal cancer. After 7 yr, she presented with anal spotting. Endoscopic biopsies revealed adenocarcinoma at the ileal pouch. Resection of the ileal pouch and permanent ileostomy were performed. The risk of cancer in an ileal pouch and its prevention with regular surveillance must be emphasized.
Adenocarcinoma/*diagnosis/etiology/pathology ; Adenomatous Polyposis Coli/complications/diagnosis/*surgery ; Colonic Pouches/*pathology ; Colorectal Neoplasms/*diagnosis/etiology/pathology ; Female ; Humans ; Middle Aged ; *Proctocolectomy, Restorative ; Tomography, X-Ray Computed

MUTYH, one of base-excision repair enzymes, is associated with human genetic disorders. Inherited biallelic mutations in the human MUTYH gene are responsible for an autosomal recessive syndrome-adenomatous colorectal polyposis (MUTYH associated polyposis, MAP), which significantly increases the risk of colorectal cancer (CRC). In this article we review the relationship between BER and the oxidative damage to DNA, the functional overlap of BER with other repair proteins, the molecular mechanism of tumourigenesis in MAP, and delineate the MUTYH polyposis phenotype and its prevention.
Adenomatous Polyposis Coli ; complications ; enzymology ; genetics ; Colorectal Neoplasms ; enzymology ; etiology ; genetics ; DNA Damage ; DNA Glycosylases ; genetics ; Germ-Line Mutation ; Humans ; Mutation ; Risk Factors

PURPOSE: The restorative proctocolectomy has been accepted as the operation of choice for chronic ulcerative colitis and familial adenomatous polyposis. The purpose of this study was to assess the operative safety and the functional outcome after a total proctocolectomy and ileal-pouch anal anastomosis. METHODS: The medical records of 16 patients who had undergone a total proctocolectomy and ileal-pouch anal anastomosis for ulcerative colitis (n=9) and familial adenomatous polyposis (n=7) from January 1996 to December 1999 were reviewed. The mean length of follow-up was 19.9 months, and we evaluated functional outcome using a prepared questionnaire. RESULTS: A hand-sewn anastomosis with diverting ileostomy was performed in 9 patients, and a double stapled anastomosis was done in 7 patients. Postoperative complications occurred in 8 cases (50%): intestinal obstructions in 4 patients and anastomosis related complications in 4 patients, i.e. stenosis (n=2), leak (n=1) and perianal abscess (n=1). The defecation frequency and the, day and night continence were improved in the first period (one year after surgery) compared to the second period (3 months after surgery). The need for anti-diarrheal medication, and for the use of a pad was also decreased in the second period compared to the first period. Postoperative urinary function was satisfactory in 13 of 14 patients. Postoperative sexual function was assessed in 8 patients (5 males, 3 females) and showed in good erection (5/5), ejaculation (5/5), and satisfactory sexual life (8/8). CONCLUSION: Satisfactory functional outcomes regarding the frequency of bowel movement and fecal incontinence and operative safety can be achieved after a restorative proctocolectomy for chronic ulcerative colitis and familial adenomatous polyposis.
Abscess ; Adenomatous Polyposis Coli ; Colitis, Ulcerative ; Constriction, Pathologic ; Defecation ; Ejaculation ; Fecal Incontinence ; Follow-Up Studies ; Humans ; Ileostomy ; Intestinal Obstruction ; Male ; Medical Records ; Postoperative Complications ; Proctocolectomy, Restorative* ; Surveys and Questionnaires

PURPOSE: We evaluated the short- and long-term outcomes of laparoscopic total proctocolectomy with ileal pouch-anal anastomosis (TPC/IPAA) for treatment of familial adenomatous polyposis (FAP). Also, we assessed the oncologic outcomes in FAP patients with coexisting malignancy. METHODS: From August 1999 to September 2010, 43 FAP patients with or without coexisting malignancy underwent TPC/IPAA by a laparoscopic-assisted or hand-assisted laparoscopic surgery. RESULTS: The median age was 33 years (range, 18 to 58 years) at the time of operation. IPAA was performed by a hand-sewn method in 21 patients (48.8%). The median operative time was 300 minutes (range, 135 to 610 minutes), which reached a plateau after 22 operations. Early postoperative complications within 30 days occurred in 7 patients (16.3%) and long-term morbidity occurred in 15 patients (34.9%) including 6 (14.0%) with desmoid tumors and 3 (7.0%) who required operative treatment. Twenty-two patients (51.2%) were diagnosed with coexisting colorectal malignancy. The median follow-up was 58.5 months (range, 7.9 to 97.8 months). There was only 1 case of local recurrence in the pelvic cavity. No cases of adenocarcinoma at the residual rectal mucosa developed. 5-year disease-free survival rate for 22 patients who had coexisting malignancy was 86.5% and 5-year overall survival rate was 92.6%. Three patients died from pulmonary or hepatic metastasis. CONCLUSION: Laparoscopic TPC/IPAA in patients with FAP is feasible and offers favorable postoperative outcomes. It also delivered acceptable oncological outcomes in patients with coexisting malignancy. Therefore, laparoscopic TPC/IPAA may be a favorable treatment option for FAP.
Adenocarcinoma ; Adenomatous Polyposis Coli ; Disease-Free Survival ; Fibromatosis, Aggressive ; Follow-Up Studies ; Humans ; Mucous Membrane ; Operative Time ; Postoperative Complications ; Recurrence ; Survival Rate

Colorectal cancer is one of the most common malignancies in the world. Many mouse models have been developed to evaluate features of colorectal cancer in humans. These can be grouped into genetically-engineered, chemically-induced, and inoculated models. However, none recapitulates all of the characteristics of human colorectal cancer. It is critical to use a specific mouse model to address a particular research question. Here, we review commonly used mouse models for human colorectal cancer.
Adenomatous Polyposis Coli ; genetics ; pathology ; Animals ; Colorectal Neoplasms ; chemically induced ; etiology ; genetics ; pathology ; Colorectal Neoplasms, Hereditary Nonpolyposis ; genetics ; pathology ; Disease Models, Animal ; Genetic Engineering ; Humans ; Inflammation ; complications ; Mice ; Mice, Transgenic ; Neoplasm Metastasis