The ileo neo rectal anastomosis (INRA) in patients with familial adenomatous polyposis: clinical results at two years

BACKGROUND: Ileo neo rectal anastomosis (INRA) is a promising alternative for patients with familial adenomatous polyposis (FAP) to restorative proctocolectomy with its morbidity and unpredictable functional outcome to colectomy with ileo rectal anastomosis (IRA) with the continuing risk of rectal cancer. The aims of the present study were to evaluate the function of the neorectum, to assess the morbidity and complications of the operation and to determine the incidence of neorectal polyps. METHODS: Data of all patients having INRA, including bowel function and complications, were prospectively recorded. The reservoir capacity was determined repeatedly by physiologic tests. The anal sphincter complex was assessed by manometry and ultrasound examination. Evaluation of the neorectal mucosa was performed by endoscopy. RESULTS: Six patients underwent the INRA procedure for FAP. Median defaecation frequency two years postoperatively was 5.5/24 h (range 4-7) including 1/night (range 0-2). Endoscopic examination showed normal mucosa and no evidence of polyp formation in all patients. CONCLUSION: INRA affords a good functional reservoir and is accompanied by few reservoir-related complications. At a minimum follow up period of two years, no growth of polyps in the neorectum occurred.     

Colectomy and ileorectal anastomosis or restorative proctocolectomy for familial adenomatous polyposis

The choice of prophylactic operation for familial adenomatous polyposis (FAP) is controversial. Colectomy and ileorectal anastomosis (IRA) is a time-honoured procedure but has recently been replaced by restorative proctocolectomy in many centres. The objective of this study was to compare the operative and functional outcomes following IRA and restorative proctocolectomy (RPC). The morbidity rate, operation time, blood loss and hospital stay were compared in 99 IRA and 33 RPC patients. The functional outcome following IRA and RPC were compared in 22 sex-matched pairs. The median hospital stay was 11 days after IRA and 12 days after RPC. The operation time was longer in RPC (216 vs 182 min) and blood loss greater (1253 vs 634 ml). The complication rates were 30% after RPC and 18% after IRA. None of 23 primary RPC operations failed, but two (20%) of the 10 patients with secondary RPC following IRA finally received a permanent ileostomy. The overall functional satisfaction was excellent in 82% and 88% after RPC and IRA, respectively. The mean basal anal pressure was higher in the IRA groups (54 vs 39 cmH₂O, P  = 0.004) and the stool frequency slightly less (4.7 vs 5.8, P  = 0.06) than after RPC. There is little difference in short-term surgical or functional results between IRA and RPC but a secondary RPC may be unsuccessful. Therefore, primary RPC may be a better option in FAP than IRA.     

Mucosectomy and stapled pouch‐anal anastomosis in familial adenomatous polyposis

Aim In familial adenomatous polyposis, a restorative proctocolectomy with an ileo‐anal pouch may be performed either with a mucosectomy and a hand‐sewn anastomosis or as a stapled anastomosis without a mucosectomy. The disadvantage of the former is suboptimal bowel function and the disadvantage of the latter is a high risk of recurrent adenomas in the rectal mucosal remnant. Method A procedure is presented that combines the advantages of mucosectomy and stapled ileo‐anal anastomosis. Results No severe complications were seen in 14 patients. After a median follow up of 29 (range 7–144) months, 13 (93%) patients were fully continent day and night with a median frequency of defecation of 5 (range 2–8)/24 h. No adenomas were found at the annual endoscopic follow up. Conclusion Mucosectomy with a stapled ileo‐anal pouch has few complications. Short‐term results show good function and a very low risk of recurrent adenoma development.     

回肠储袋与直肠肌管吻合术治疗家族性腺瘤性息肉病15例分析

目的探讨回肠储袋与直肠肌管吻合术在治疗家族性腺瘤性息肉病中的价值。方法回顾性分析15例FAP患者行全大肠切除回肠储袋与肛管或直肠肌管吻合术的手术方式、并发症以及结肠镜、肛肠测压等随访资料。结果回肠储袋与直肠肌管吻合术安全可靠,无严重并发症,较回肠储袋肛管吻合术术后排便频率明显降低,肛管静息压力和最大收缩压力明显增高,肛管长度明显延长。结论与传统的回肠储袋肛管吻合术相比,回肠储袋与直肠肌管吻合术简化了手术,减少了盆底肌肉和肛门括约肌损伤,保留了更多控便功能。     

Adenocarcinoma after ileoanal anastomosis for familial adenomatous polyposis: Review of risk factors and current surveillance apropos of a case

Restorative proctocolectomy has become the most common surgical option for familial adenomatous polyposis (FAP) patients, based on the premise that it provides good functional results and reduces colorectal cancer risk. But several adenomas may develop in the pouch mucosa over the years, and even cancer at the anastomosis or in the pouch mucosa has been reported rarely. This article aims to describe a case of pouch cancer after restorative proctocolectomy for FAP, reviewing the possible causes of this unfortunate outcome. A 40-year-old man started presenting with fecal blood loss 12 years after restorative proctocolectomy with mucosectomy and hand-sewn anastomosis for FAP. Proctologic examination revealed an elevated mass 3 cm from the anal margin, which biopsy determined to be a mucinous adenocarcinoma.Thepatient underwent pouch excisionand terminal ileostomy. Histologic analysisshowed a 2.2 cm mucinous adenocarcinoma between the ileal and anal mucosa (T2N0Mx) and multiple tubular microadenomas in the ileal pouch. The present case and the data presented here suggest that restorative proctocolectomy is not a "cancer-free" alternative to ileorectal anastomosis, because it does not remove the risk of metachronous intestinal neoplasia. Although the long-term risk of malignancy is not known, lifelong follow-up seems to be necessary after restorative proctocolectomy. Current recommendations for pouch surveillance are presented.     

Quality of life after restorative proctocolectomy and ileal pouch–anal anastomosis in patients with familial adenomatous polyposis: a matter of adjustment

Aim Favourable outcomes for health‐related quality of life (HRQL) have been reported in patients with familial adenomatous polyposis (FAP) after restorative proctocolectomy and ileal pouch–anal anastomosis (RPC). However, less is known about patients’ subjective experience and adjustment to postoperative impairment. Using a multidimensional psychometric assessment, we investigated patient‐reported HRQL to determine the impact of the patient’s subjective experience together with medical, functional and psychosocial factors on HRQL. Method In this cross‐sectional study, 116 FAP patients who had undergone RPC on average 8 years earlier completed standardized and study‐specific questionnaires and participated in a personal interview. The impact of medical, functional and psychosocial factors on patients’ HRQL was determined by regression analyses. Results When using a generic psychometric measure, FAP patients’ overall HRQL was comparable with that of the general population. Impaired HRQL, however, was found in patients reporting poor pouch function in contrast to those reporting good or moderate functional outcome. Findings from a personalized interview also suggested that a good functional result does not necessarily translate into good HRQL. Personal resources predicted patients’ physical and psychological well‐being, whereas little variance of HRQL was explained by medical factors and function. Conclusion Patients’ HRQL is, to a substantial degree, the result of adjustment to the adverse impact of RPC. By using personal resources the majority of patients may achieve satisfactory HRQL levels even when bowel function is impaired. A multidimensional assessment that comprises medical, functional and psychosocial aspects is required to ascertain an adequate evaluation of FAP patients after RPC.     

Laparoscopic total colectomy and ileorectal anastomosis (IRA), supported by an enhanced recovery programme in cases of familial adenomatous polyposis

Aim Familial adenomatous polyposis (FAP) is associated with an almost 100% chance of colorectal cancer by the age of 50 years. Surgery is the only prophylaxis. The study compared the outcome of prophylactic laparoscopic colectomy and ileorectal anastomosis (IRA) with conventional open surgery. Method A case–control study was carried out including all cases of proven FAP undergoing prophylactic laparoscopic colectomy with IRA between 1 April 2006 and 31 March 2008 using a standardized technique within an enhanced recovery programme (ERAS). All data were collected prospectively. Controls were identified retrospectively from patients who underwent open prophylactic IRA before 31 March 2008 and were matched for age, gender, BMI and ASA. Outcomes included duration of surgery, complications, length of stay, readmission and mortality. Results During the study period 25 patients underwent laparoscopic IRA. The median operating time was longer in the laparoscopic group (235 vs 180 mins, P < 0.0001) but the median hospital stay was shorter (6 vs 9 days, P = 0.002). Overall there were fewer complications in the laparoscopic group (20%vs 40%, P = 0.3). Conclusion Laparoscopic prophylactic colectomy with IRA in FAP is safe and feasible, and combined with ERAS leads to accelerated recovery and possibly fewer complications than open surgery. FAP patients undergoing prophylactic IRA should be offered laparoscopic surgery.     

APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis

The canonical Wnt pathway plays a key regulatory role in osteoblastogenesis and bone mass acquisition through its main effector, β‐catenin. Adenomatous polyposis coli (APC) represents the key intracellular gatekeeper of β‐catenin turnover, and heterozygous germ‐line mutations in the APC gene cause familial adenomatous polyposis (FAP). Whether APC mutations affect bone mass has not been previously investigated. We conducted a cross‐sectional study evaluating skeletal status in FAP patients with a documented APC mutation. Twenty‐two FAP patients with a mean age of 42 years (54.5% women) were included in this study. Mean bone mineral density (BMD) Z‐scores were significantly increased above normal at all measured sites: lumbar spine (p < .01), total hip (p < .01), femoral neck (p < .05), and trochanter (p < .01). Z‐scores were +1 or greater in 14 patients (63.6%) and +2 or greater in 5 (22.7%). Mean values of bone turnover markers were within normal ranges. There was a significant positive correlation between procollagen type I N‐terminal propeptide (P1NP) and β‐crosslaps (β‐CTX) (r = 0.70, p < .001) and between these markers and sclerostin and BMD measurements. We demonstrate that FAP patients display a significantly higher than normal mean BMD compared with age‐ and sex‐matched healthy controls in the presence of a balanced bone turnover. Our data suggest a state of “controlled” activation of the Wnt signaling pathway in heterozygous carriers of APC mutations, most likely owing to upregulation of cytoplasmic β‐catenin levels. © 2010 American Society for Bone and Mineral Research.     

Thyroid carcinoma in patients with familial adenomatous polyposis

There has been a growing awareness of the association between papillary thyroid carcinoma and familial adenomatous polyposis (FAP). The cases of four young patients with papillary thyroid carcinoma occurring with FAP are presented. Three patients underwent surgery to provide specimens for detailed histological examination. The surgical specimens showed well-encapsulated multicentric tumours exhibiting a predominantly papillary architectural growth pattern. In some areas, follicular architecture and cribriform patterns were noted. Atypical areas of spindle cells in a trabecular or solid configuration, which are not normally seen in classical papillary thyroid carcinoma, were evident. Malignant cells exhibited a graduation of cuboidal to tall cells with abundant amphophilic cytoplasm. The nuclei did not exhibit the typical nuclear clearing as seen in papillary thyroid carcinoma, but nuclear grooving and inclusions were noted. Psammoma bodies were not seen in any of the specimens. In a limited review of these patients, features such as young age at presentation, multicentricity and unusual histology suggest that thyroid carcinoma associated with FAP may represent a distinct form of thyroid cancer.     

Abdominopreanal proctocolectomy and ileal U-pouch in ulcerative colitis or familial adenomatous polyposis

In some cases of ulcerative colitis and familial adenomatous polyposis, cancerous changes frequently occur on the distal rectum, in which case a restorative proctocolectomy is not recommended because of the limitations of a radical resection. Even if rectal cancer is not confirmed preoperatively, a strong possibility of cancer in the rectum could afford some support for a radical pelvic dissection during the anus-sparing procedure. The author designed a new operative procedure for resolving this problem. It is an abdominopreanal extrasphincteric proctocolectomy with preileal-pouch positioning of the distal ileal segment including the ileocecal sphincter (ileal U-pouch) for the treatment of ulcerative colitis and familial adenomatous polyposis coli (restorative radical proctocolectomy). The author performed this restorative radical proctocolectomy on seven patients over the past 5 years at the Department of Surgery, Pusan National University Hospital, of which four cases were ulcerative colitis and three were familial adenomatous polyposis. The results obtained were as follows: (a) The most common sequela was nocturnal seepage, which lasted for 6 months in 4 patients after the final operation. (b) The mean frequency of defecation was six times per day at 6 months after the final operation. (c) The average amount of stool was about 460 g per day at 6 months after the final operation. Therefore, the ileal U-pouch is considered to be effective in reducing the daily amount of stool. A preanal extrasphincteric approach could be especially useful in the case of a difficult dissection of the anterectal space while also providing an effective dependent drainage of the ileoanal anastomotic space.This paper was presented at the 95th Annual Congress of the Japan Surgical Society in Nagoya, Japan, April 10–12, 1995. The author received a travel grant from the Japan Surgical Society.     

Ampullary carcinoma in familial adenomatous polyposis: Report of a case

We report the case of a 48-year-old man with familial adenomatous polyposis (FAP) who was found to have ampullary carcinoma 6 years after undergoing total colectomy. The patient was examined periodically after colorectal surgery except for duodenoendoscopy because he had also previously undergone distal gastrectomy with gastrojejunal anastomosis for a duodenal ulcer at 27 years of age. An ampullary lesion was suspected on blood chemistry and detected by computed tomography scan and ultrasonography although the patient showed no clinical symptoms. A pancreatoduodenectomy was performed and the histological examination revealed well-differentiated adenocarcinoma with no metastasis to the regional lymphnodes. Long-term periodic surveillance of the upper gastrointestinal tract including the papilla of Vater is therefore important for FAP patients who have undergone prophylactic colectomy.     

Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations

BACKGROUND::The aim of this study was to determine the proportion of patients with familial adenomatous polyposis (FAP) who had mutations in the desmoid region of the adenomatous polyposis coli (APC) gene that phenotypically expresses desmoid disease, and to determine the role for surgery in these patients. METHODS: Data from the North West Region FAP database and case notes were analysed retrospectively. RESULTS: Of 363 patients with FAP, 47 from ten families had APC mutations in the desmoid region 3' to codon 1399. Of 22 patients undergoing surgery, 16 developed desmoids, and of these 12 had mesenteric desmoid disease. Complications from mesenteric desmoids were death (two patients), enterectomy (three), local resection (three), fistula (one), cholangitis and local resection (one), bowel obstruction (one) and bowel and ureteric obstruction (one). Preoperative polyp burden ranged from 0 to 100 in eight patients (median age 24.5 (range 16-39) years) and more than 100 in seven (median age 39 (range 31-64) years). One patient had no record of polyp burden. CONCLUSION: In individuals with 3' APC mutations, abdominal surgery is associated with a 65 per cent risk of developing mesenteric desmoids. An alternative strategy might be to attempt to manage the polyps endoscopically.     

Dispelling misconceptions in the management of familial adenomatous polyposis

Patients with familial adenomatous polyposis require surgical intervention at some point in their lives. The diagnosis is often apparent from their phenotype and family history, however, this is not always the case. Many factors can influence the surgical strategy although the polyposis burden and distribution remain the main consideration. While prophylactic removal of the rectum and colon is often required, sparing the rectum at the index surgery is safe in select patients. This article aims to dispel misconceptions in the diagnosis and treatment of patients with familial adenomatous polyposis.     

Colectomy with ileorectal anastomosis for familial adenomatous polyposis: the risk of rectal cancer

One hundred thirty-three patients with familial adenomatous polyposis undergoing colectomy and ileorectal anastomosis have been reviewed for the occurrence of cancer in the rectal stump. Ten patients developed rectal cancer (Actuarial survivorship rate of 88% for those patients free of rectal cancer at 20 years). Potential risk factors for the development of rectal cancer, including age at colectomy, previous colon cancer, number of rectal polyps, and length of the rectal stump, were analyzed and no significant differences were found. A policy of total colectomy with ileorectal anastomosis at 12 to 15 cm with conscientious lifelong follow-up thereafter is advocated for persons affected by familial adenomatous polyposis.     

Patients with familial adenomatous polyposis experience better bowel function and quality of life after ileorectal anastomosis than after ileoanal pouch

Objective To evaluate the quality of life with emphasis on bowel function in patients undergoing either total colectomy with ileorectal anastomosis (IRA) or restorative proctocolectomy with ileal pouch‐anal anastomosis (IPAA) for familial adenomatous polyposis (FAP). Patients and methods All 151 patients operated on in our department between 1971 and 2000 were analysed retrospectively. Since 42 patients had to undergo reoperations, a total of 194 bowel procedures were performed. The final operative breakdown was: 48 IRA, 62 IPAA, 33 total proctocolectomies and 8 other procedures. By the end of the period under consideration, 40 patients had died, 28 had been lost to follow‐up, 83 patients were still alive and of these 76 were analysed. Continence function and quality of life with emphasis on overall bowel function (Wexner (WS)‐, Jostarndt (JS)‐, Öresland (ÖS)‐ and Pemberton (PS)‐scores) were recorded in 59 patients (22 IRA and 37 IAP). Results Continence and bowel function were significantly better after IRA than after IPAA (mean scores: WS, 1.1 vs 5.4, P = 0.001; JS, 32.5 vs 24.7, P = 0.0001; ÖS, 2.9 vs 7.9, P = 0.0001), as was quality of life (PS, 25.6 vs 19.6, P = 0.001). The mean values for each single item of all 4 scores were consistently better after IRA. Neither gender, age nor type of pouch‐anal anastomosis (stapled vs hand‐sewn) had a significant influence on outcome. IPAA patients with uneventful follow‐up (n = 27) had better mean values for all 4 scores (WS, 4.2 vs 7.3; JS, 26.1 vs 23.1; PS, 20.4 vs 17.7; ÖS, 6.6 vs 9.9) than those with postoperative complications (n = 10; 27%), but statistical significance was reached only in the ÖS (P = 0.026). No such difference was seen after IRA (14% complication rate). Conclusion The significantly better continence after IRA resulting in superior patient comfort and quality of life must be balanced against the oncological disadvantage of this procedure. On the basis of large patient population studies, genotype‐phenotype correlations with respect to the risk for rectal cancer may need to be taken into account. Postoperative complications may have a lasting negative effect on outcome after IPAA.     

Rectal cancer risk in older patients with familial adenomatous polyposis and an ileorectal anastomosis: a cause for concern.

The risk of rectal cancer in 224 patients with familial adenomatous polyposis with an ileorectal anastomosis has been estimated by life-table analysis. Until the age of 50 years the cumulative risk is reasonably low at 10 per cent (95 per cent confidence interval 4.5-16 per cent), increasing sharply to 29 per cent (95 per cent confidence interval 18-40 per cent) by the age of 60 years. This means that surveillance of the retained rectum in older patients must either be improved or they should undergo restorative proctocolectomy in earlier middle age.