Natural history of anorectal sepsis.

BACKGROUND: Progression from anorectal abscess to fistula is poorly described and it remains unclear which patients develop a fistula following an abscess. The aim was to assess the burden of anorectal abscess and to identify risk factors for subsequent fistula formation. METHODS: The Hospital Episode Statistics database was used to identify all patients presenting with new anorectal abscesses. Cox regression analysis was undertaken to identify factors predictive of fistula formation. RESULTS: A total of 165 536 patients were identified in the database as having attended a hospital in England with an abscess for the first time between 1997 and 2012. Of these, 158 713 (95·9 per cent) had complete data for all variables and were included in this study, the remaining 6823 (4·1 per cent) with incomplete data were excluded from the study. The overall incidence rate of abscess was 20·2 per 100 000. The rate of subsequent fistula formation following an abscess was 15·5 per cent (23 012 of 148 286) in idiopathic cases and 41·6 per cent (4337 of 10 427 in patients with inflammatory bowel disease (IBD) (26·7 per cent coded concurrently as ulcerative colitis; 47·2 per cent coded as Crohn's disease). Of all patients who developed a fistula, 67·5 per cent did so within the first year. Independent predictors of fistula formation were: IBD, in particular Crohn's disease (hazard ratio (HR) 3·51; P < 0·001), ulcerative colitis (HR 1·82; P < 0·001), female sex (HR 1·18; P < 0·001), age at time of first abscess 41-60 years (HR 1·85 versus less than 20 years; P < 0·001), and intersphincteric (HR 1·53; P < 0·001) or ischiorectal (HR 1·48; P < 0·001) abscess location compared with perianal. Some 2·9 per cent of all patients presenting with a new abscess were subsequently diagnosed with Crohn's disease; the median time to diagnosis was 14 months. CONCLUSION: The burden of anorectal sepsis is high, with subsequent fistula formation nearly three times more common in Crohn's disease than idiopathic disease, and female sex is an independent predictor of fistula formation following abscess drainage. Most fistulas form within the first year of presentation with an abscess.

Short-term efficacy and safety of three novel sphincter-sparing techniques for anal fistulae: a systematic review.

BACKGROUND: The surgical treatment of complex anal fistulae, particularly those involving a significant portion of the anal sphincter in which fistulotomy would compromise continence, is challenging. Video-assisted anal fistula treatment (VAAFT), fistula tract laser closure (FiLaC™) and over-the-scope clip (OTSC®) proctology system are all novel sphincter-sparing techniques targeted at healing anal fistulae. In this study, all published articles on these techniques were reviewed to determine efficacy, feasibility and safety. METHODS: A systematic search of major databases was performed using defined terms. All studies reporting on experience of these techniques were included and outcomes (fistula healing and safety) evaluated. RESULTS: Eighteen studies (VAAFT-12, FiLaC™-3, OTSC®-3) including 1245 patients were analysed. All were case series, and outcomes were heterogeneous with follow-up ranging from 6 to 69 months and short-term (< 1 year) healing rates of 64-100%. Morbidity was low with only minor complications reported. There was one report of minor incontinence following the first reported study of FiLaC™, and this was treated successfully at 6 months with rubber band ligation of hypertrophied prolapsed mucosa. There are inconsistencies in the technique in studies of VAAFT and FiLaC™. CONCLUSIONS: All three techniques appear to be safe and feasible options in the management of anal fistulae, and short-term healing rates are acceptable with no sustained effect on continence. There is, however, a paucity of robust data with long-term outcomes. These techniques are thus welcome additions; however, their long-term place in the colorectal surgeon's armamentarium, whether diagnostic or therapeutic, remains uncertain.

Haemorrhoids: modern diagnosis and treatment.

Haemorrhoids present often to primary and secondary care, and haemorrhoidal procedures are among the most common carried out. They may co-exist with more serious pathology, and correct evaluation is important. In most cases a one-off colonoscopy in patients aged 50 or above with flexible sigmoidoscopy in younger patients is reasonable. Many people with haemorrhoids do not require treatment. Topical remedies provide no more than symptomatic relief-and even evidence for this is poor. Bulk laxatives alone may improve symptoms of both bleeding and prolapse and seem as effective as injection sclerotherapy. Rubber band ligation is effective in 75% of patients in the short term, but does not treat prolapsed haemorrhoids or those with a significant external component. Conventional haemorrhoidectomy remains the most effective treatment in the long term, the main limitation being post-operative pain. Metronidazole, topical sphincter relaxants and operative technique have all been shown to reduce pain. Stapled haemorrhoidectomy and haemorrhoidal artery ligation techniques are probably less effective but less painful. Long-term data are poor for all procedures, with many studies reporting only 1-3 years of follow-up data. Haemorrhoids are common in pregnancy, occurring in 40% of women. They can usually be treated conservatively during pregnancy, with any treatment delayed until after delivery. Acutely strangulated haemorrhoids may be treated either conservatively or operatively. There is an increased risk of anal stenosis after acute surgery, but the risks of sepsis and sphincter damage are less significant than previously thought. The majority of patients who are treated conservatively will still require definitive treatment at a later date.

Management of tailgut cysts in a tertiary referral centre: a 10-year experience.

AIM: Tailgut cysts are rare congenital lesions typically presenting as presacral masses. A variable clinical presentation often leads to misdiagnosis and unsuccessful operations. METHOD: A retrospective analysis was performed of tailgut cysts presenting to one surgeon at St Mark's hospital between 2003 and 2013. The patient demographic data and clinicopathological and radiological features, together with perioperative details and recurrence, were reviewed. RESULTS: A total of 17 patients (15 women) with a median age of 35 (21-64) years were included in the study. The mean duration of symptoms before referral was 40 months, with sepsis predominating in 12 cases. Fifteen of the patients had previously undergone surgery (mean 2.9 procedures). A posterior surgical approach was adopted in all patients with a coccygectomy performed in 13. A loop colostomy was formed in three patients. Two of them went on to have a secondary pull-through operation after an initial failed local repair of rectal injury. One case was reported to show malignant degeneration on histological examination. There was one recurrence during a median follow-up period of 13 (3-36) months. CONCLUSION: Tailgut cysts are an uncommon yet important cause of chronic perianal sepsis. Suspicion should be raised in a patient, usually female, presenting with a history of unsuccessful procedures. Diagnosis can be made by clinical assessment and MRI. Complete excision usually resolves the problem.

What role do bacteria play in persisting fistula formation in idiopathic and Crohn's anal fistula?

AIM: The aetiology of Crohn's disease-related anal fistula remains obscure. Microbiological, genetic and immunological factors are thought to play a role but are not well understood. The microbiota within anal fistula tracts has never been examined using molecular techniques. The present study aimed to characterize the microbiota in the tracts of patients with Crohn's and idiopathic anal fistula. METHOD: Samples from the fistula tract and rectum of patients with Crohn's and idiopathic anal fistula were analysed using fluorescent in situ hybridization, Gram staining and scanning electron microscopy were performed to identify and quantify the bacteria present. RESULTS: Fifty-one patients, including 20 with Crohn's anal fistula, 18 with idiopathic anal fistula and 13 with luminal Crohn's disease and no anal fistula, were recruited. Bacteria were not found in close association with the luminal surface of any of the anal fistula tracts. CONCLUSION: Anal fistula tracts generally do not harbour high levels of mucosa-associated microbiota. Crohn's anal fistulas do not seem to harbour specific bacteria. Alternative explanations for the persistence of anal fistula are needed.

Outcomes of laparoscopic and open restorative proctocolectomy.

BACKGROUND: The literature on laparoscopic restorative proctectomy (RP) and proctocolectomy (RPC) is limited. This study compared clinical outcomes of laparoscopic RP and RPC with those of conventional open surgery at one centre. METHODS: Data were analysed from consecutive patients undergoing RPC and RP between November 2006 and November 2011. A standard laparoscopic technique was developed during the first 2 years, performed by two laparoscopic surgeons, with selection of patients who had not previously undergone open colectomy. Study endpoints included postoperative length of stay, 30-day morbidity, readmission, reoperation, pouch function and failure. RESULTS: A total of 207 patients were included; open surgery was performed in 131 (63·3 per cent) and a laparoscopic procedure in 76 (36·7 per cent). There were no significant differences in patient demographics. The conversion rate was 9 per cent (7 of 76). The median (i.q.r.) duration of operation was shorter for open than for laparoscopic procedures: 208 (178-255) versus 285 (255-325) min respectively (P < 0·001). Laparoscopic RPC had a shorter length of stay: median (i.q.r.) 6 (4-8) versus 8 (7-12) days (P < 0·001). The rate of minor complications was lower in the laparoscopic group (33 versus 50·4 per cent; odds ratio (OR) 0·48, 95 per cent confidence interval 0·27 to 0·87).There were no significant differences in total complications (51 per cent after laparoscopy versus 61·5 per cent after open surgery; OR 0·66, 0·37 to 1·17), anastomotic leakage, major morbidity, 30-day readmission, reoperation and stoma closure rates. Pouch failure (including permanent stoma) occurred in 14 (7·7 per cent) of 181 patients. Three patients died, all in the open surgery group. CONCLUSION: Laparoscopic RPC is feasible with some short-term advantages.

Clinical outcomes of colo-anal pull-through procedure for complex rectal conditions.

AIM: Pull-through with colo-anal sleeve anastomosis may be used as a last resort to avoid permanent diversion in patients with complex rectal conditions. This procedure allows the preservation of intestinal continuity by minimizing the hazards of deep dissection in an inflamed and fibrosed pelvis. METHOD: A retrospective study was performed of colo-anal pull-through procedures carried out between January 1998 and December 2012 at St Mark's Hospital by one surgeon. Patients were identified from operative logbooks and their case notes were reviewed. Thirty-four patients (21 women) with a median age of 54 (21-75) years underwent the pull-through operation for complex rectal conditions involving fistulae and/or a hostile pelvis as a final attempt to restore intestinal continuity. RESULTS: The median length of hospital stay was 7.5 (5-45) days. Median follow-up was 23 (3-71) months. There was no peri-operative mortality. There were two (6%) outright failures. Early complications occurred in 14 (41%) patients and late complications in 10 (29%). Fistulae recurred in seven (25%) of 28 patients but with further treatment four healed, giving an overall healing rate of 89%. Normal continence was achieved in 19 (79%) of 24 patients who were evaluated. CONCLUSION: In clinically difficult rectal situations the colo-anal pull-through procedure is a suitable salvage procedure to restore intestinal continuity before considering a permanent stoma.

Surgical management of rectovaginal fistula in a tertiary referral centre: many techniques are needed.

AIM: Surgery is the mainstay of treatment for rectovaginal fistula (RVF). Published success rates vary with initial success being around 50% rising to 80% with repeated surgery. Fistulae in Crohn's disease are more likely to recur. METHOD: A retrospective study was performed of RVF repair carried out between 2003 and 2008 in a tertiary referral centre. Patients undergoing surgery for an RVF under the senior author during the study period were identified and their clinical notes were reviewed. RESULTS: Thirty-five patients underwent 50 operations. The median age was 42 years and 83% were tertiary referrals. Two patients were lost to follow-up. Healing occurred in 19 (58%) of 33 patients after a mean of 1.4 operations. The median time to success was 11 (2.5-48) months. The 'curative' group had an overall success of 73% (19 of 26). Seventy-five per cent of non-inflammatory bowel disease patients and 67% of those with Crohn's disease had successful treatment of the RVF. Twenty-four of 35 patients (67%) underwent creation of a stoma. Sixteen of 24 (67%) were deemed fit for restoration of continuity. No demographic or disease related factors were found to influence healing. CONCLUSION: Cure of RVF can be achieved by a range of surgical approaches including abdominal and anal. A variety of different anal techniques are necessary, depending on the integrity of the anal sphincter and the presence or absence of perineal descent/internal intussusception.

Ligation of the intersphincteric fistula tract in the management of anal fistula. A systematic review.

AIM: Over the last 5 years, the ligation of the intersphincteric fistula tract (LIFT) procedure has become increasingly popular as a sphincter-preserving technique for the treatment of anal fistula. The aim of this article was to review the published literature on the LIFT procedure. METHOD: The Cochrane database and EMBASE were searched from January 1980 to November 2012, and PubMed from January 1966 to November 2012. All peer-reviewed studies that investigated the LIFT procedure for the treatment of anal fistula were eligible for inclusion. Technical notes, commentaries, letters and meeting abstracts were excluded. The primary outcome measured was the overall fistula closure rate in relation to the length of follow-up. RESULTS: Twenty-nine articles were originally identified using the search criteria. Thirteen were finally included for analysis. Sample sizes ranged from 18 to 93 patients, with a pooled total of 498. Most fistulae, 494 (99%), were of cryptoglandular aetiology, of which 470 (94%) were transsphincteric. Overall success rates ranged from 40 to 95%, with a pooled success of 71% (352 of 495 patients; 3 of 498 were lost to follow-up). Follow-up ranged from 1 to 55 months, with a reported mean or median of 4 to 19.5 months. One hundred and eighty-three patients were formally assessed for continence, out of whom 11 (6%) had a minor disturbance. CONCLUSION: Overall the systematic review shows that the LIFT procedure appears to be an effective sphincter-conserving approach for the treatment of transsphincteric anal fistula with a pooled healing rate of 71% over a mean or median follow-up period ranging from 4 to 19.5 months.

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.

Peutz-Jeghers syndrome: intriguing suggestion of gastrointestinal cancer prevention from surveillance.

BACKGROUND: Peutz-Jeghers syndrome is characterized by GI polyps and mucocutaneous pigmentation and carries an increased risk of GI cancer. GI polyps may bleed or cause intussusception. Luminal GI surveillance is recommended, but there are few data detailing outcomes from GI surveillance in Peutz-Jeghers syndrome. OBJECTIVE: This study aimed to assess outcomes from GI surveillance in patients with Peutz-Jeghers syndrome. DESIGN: This study is a retrospective review, using hospital and registry notes and endoscopy and histology reports. SETTING: The investigation was conducted at a tertiary referral center. PATIENTS: All patients with Peutz-Jeghers syndrome who were followed up at St Mark's hospital were included. MAIN OUTCOME MEASURES: The primary outcomes measured were surveillance procedures performed, complications, and long-term outcomes. RESULTS: Sixty-three patients from 48 pedigrees were included; the median age when patients were first seen was 20 years (range, 3-59). Only baseline investigations were performed in 12 patients. The remaining patients were followed up for 683 patient years, a median of 10 years (range, 2-41). Seven hundred seventy-six procedures were performed to assess the GI tract. These led to 5 double-balloon enteroscopies, 1 push enteroscopy, and 71 surgical procedures. Of the surgical procedures, 20 were performed as a result of baseline investigations, 12 arose from investigations of symptoms, and 39 were due to surveillance of asymptomatic patients. No emergency surgical interventions were performed. No luminal GI cancers were diagnosed. Of the 2461 polypectomies performed, 6 polyps contained atypia or dysplasia. Six complications arose from endoscopy or surgical intervention, requiring 5 laparotomies to manage these complications. CONCLUSION: GI surveillance in Peutz-Jeghers syndrome is relatively safe and avoids the need for emergency surgery for small-bowel polyps. The lack of GI cancers may reflect that surveillance and polypectomy have prevented cancer from developing, although the detection of neoplasia or dysplasia is uncommon.

The role of cell proliferation and crypt fission in adenoma aggressiveness: a comparison of ileoanal pouch and rectal adenomas in familial adenomatous polyposis.

AIM: In patients with familial adenomatous polyposis (FAP), ileoanal pouch cancer is rare whereas rectal cancer is common, despite polyp initiation at the two sites being similar at the molecular level. This study investigated whether the disparity in adenoma aggressiveness reflects underlying differences in histogenesis. METHOD: Normal mucosal biopsies and 2-3 mm adenomas from patients with FAP were dissected into individual crypts. Crypt area, morphology, fission and mitoses were analysed for crypts from pouch, rectum and supra-anastomotic ileum. Immunohistochemistry of similar archival samples was performed for lysozyme, ß-catenin and TP53 expression. RESULTS: The morphology of normal crypts was similar at each site, although crypt area differed. The area of normal pouch crypts was intermediate between rectum and ileum. The area of adenomatous crypts of rectum and pouch was similar, but the latter had increased asymmetrical fission. Crypt mitoses were proportional to area in all tissues, but crypt fission was reduced in adenomatous crypts from the rectum compared with the pouch. Pouch adenomas retained lysozyme expression as seen in normal ileum. Nuclear ß-catenin accumulation was similar, but TP53 expression was increased in rectal adenomas. CONCLUSION: Diminutive polyps from rectum and pouch differ in morphology and proliferation. Aggressiveness in rectal polyps is not conferred by increased crypt proliferation, fission, or activation of the Wnt signalling pathway. Increased TP53 expression suggests other molecular mechanisms may be responsible. While crypt mitoses are proportional to crypt area, the threshold for fission may be site specific, indicating that tissue origin may influence histogenesis and thus malignant potential.

For many high anal fistulas, lay open is still a good option.

BACKGROUND: Optimal treatment for high/complex anal fistulas is uncertain. We have studied one surgeon's results over a ten-year period, concentrating on high fistulas. METHODS: Demographic, fistula anatomy and treatment data were recorded for all patients undergoing surgery for anal fistula. Outcome data were recorded for patients who had been followed up for a minimum of 4 weeks. RESULTS: One hundred and eighty patients were studied. Outcome data were available for 52 low and 84 high fistulas. Fistulotomy was performed for 50 low and 48 high fistulas, with closure rates of 98 and 96%, respectively. There was fistula recurrence in two patients with high fistulas. Symptoms of sphincter disturbance were similar after lay open of low and high fistulas. Treatment of a high fistula by drainage seton had a lower rate of inadvertent passage of flatus but a similar rate of minor soiling compared with fistulotomy. CONCLUSIONS: Lay open of low and high anal fistulas is effective and associated with a similar, predictable rate of minor sphincter disturbance, amounting to a third to one quarter of patients with mild leakage of flatus and mucus. Patients with high fistulas can be cured, but when a surgeon is in doubt, a second opinion at an expert centre should be sought before definitive intervention.

Peutz-Jeghers syndrome: a systematic review and recommendations for management.

Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management. This review assesses the current literature on the clinical features and management of the condition, genotype-phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS. The proposed guidelines contained in this article have been produced as a consensus statement on behalf of a group of European experts who met in Mallorca in 2007 and who have produced guidelines on the clinical management of Lynch syndrome and familial adenomatous polyposis.

Risk factors for secondary proctectomy in patients with familial adenomatous polyposis.

BACKGROUND: Colectomy and ileorectal anastomosis (IRA) or restorative proctocolectomy are performed for prophylaxis in familial adenomatous polyposis (FAP). After IRA patients may require secondary proctectomy for worsening polyposis or rectal cancer. Outcomes after IRA were evaluated and risk factors predictive of progressive rectal disease identified. METHODS: Parametric survival analysis was used to identify predictors of progressive rectal disease in all patients undergoing an IRA for FAP at a single centre. Hazard ratios (HRs) were calculated for phenotype, genotype, sex, age at surgery and presence of colonic cancer. RESULTS: Of 427 patients who underwent IRA, 48 (11.2 per cent) developed rectal cancer and 77 (18.0 per cent) required proctectomy for worsening polyposis over a median follow-up of 15 (range 7-25) years. By the age of 60 years half of the patients retained their rectum. Rectal polyp count exceeding 20 (HR 30.99, 95 per cent confidence interval 9.57 to 100.32; P < 0.001), APC mutation codon 1250-1450 (HR 3.91, 1.45 to 10.51; P = 0.007), colonic polyp count 500 or more (HR 2.18, 1.24 to 3.82; P = 0.006) and age less than 25 years at the time of surgery (HR 1.99, 1.17 to 3.37; P = 0.011) were independent predictors of progressive rectal disease. CONCLUSION: The risk of proctectomy after IRA for FAP is based on patient genotype, phenotype and age at surgery.

Risk factors predicting intra-abdominal desmoids in familial adenomatous polyposis: a single centre experience.

BACKGROUND: Desmoids are myofibroblastic proliferations occurring in 15% of patients with familial adenomatous polyposis (FAP), 70% being intra-abdominal desmoids (IAD). Since the morbidity and mortality due to desmoids is almost entirely attributable to IAD, we aimed to identify specifically risk factors predicting IAD development in FAP. METHODS: We undertook a retrospective review of our institutional database. Multivariate analysis was performed, and hazard ratios (HR) calculated for variables including female gender, 3' APC mutation, surgical intervention for FAP (colectomy with ileo-rectal anastomosis or restorative proctocolectomy), age at surgery and family history (FH) of desmoids. RESULTS: Of the 558 patients analysed, 49 (9%) developed IAD; 22 (4%) diagnosed intra-operatively and 27 (5%) developing over a median post-operative period of 34 (7-120) months. 75% of IAD had developed before age 40. A 3' APC mutation (HR 5.2, 95% CI 2.1-13.3, P = 0.001), positive FH (HR 2.5, 95% CI 1.4-4.6, P = 0.003) and female gender (HR 1.9, 95% CI 1.0-3.5, P = 0.04) were found to be predictive of IAD development. No significant difference in IAD risk was detected between the type of surgical intervention (P = 0.37) or age at surgery (P = 0.29). CONCLUSIONS: Our analysis confirms 3' APC mutation to be the most significant risk factor for IAD development. The independent association between positive FH and IAD risk suggests the existence of modifier genes, independent of the APC genotype-phenotype correlation. Few of these risk factors can be meaningfully modified. Delaying prophylactic surgery may be appropriate in female patients with a 3' APC mutation and attenuated polyposis.

Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series.

Juvenile polyposis syndrome is one of the hamartomatous polyposis syndromes and demonstrates phenotypic heterogeneity. All patients with juvenile polyposis develop colorectal polyps and are at risk of colorectal cancer. Small-bowel involvement is variably described. Small-intestinal cancer is reported but is rare and there is no evidence-based protocol for small-intestinal surveillance. This case series reports the small-bowel capsule endoscopy findings and genetic mutational analyses of ten adults (7-male; median age 39.2 years, interquartile range 37.4 - 42.0 years) with documented juvenile polyposis syndrome. Two patients had small-bowel polyps beyond the range of standard gastroscopy identified at capsule endoscopy: a 6-mm ileal polyp in one, and 10-mm and 6-mm ileal polyps in the second (histology unknown). Duodenal polyps were detected in a third patient at capsule endoscopy. Three further patients had previously documented duodenal polyps at surveillance gastroscopy. A SMAD4 mutation was identified in seven patients but there was no obvious association with gastric/small-bowel polyp burden. In conclusion, capsule endoscopy provided information additional to conventional endoscopy in patients with juvenile polyposis syndrome and was well tolerated. However, no lesions requiring clinical intervention were identified and polyp numbers were small. Capsule endoscopy may appropriately be used as a baseline investigation for the identification of patients with large or dense small-bowel polyps for whom ongoing small-bowel investigation would be recommended. Patients in whom polyps are confined to the colon are unlikely to require ongoing small-bowel review.

Adrenal incidentaloma in familial adenomatous polyposis: a long-term follow-up study and schema for management.

PURPOSE: Adrenal incidentaloma is often diagnosed in patients with familial adenomatous polyposis, because they frequently undergo abdominal imaging and have a raised incidence of adrenal incidentaloma. This study investigates the natural history of adrenal incidentaloma in familial adenomatous polyposis, and suggests a schema for management. METHODS: An original cohort of 14 familial adenomatous polyposis patients with adrenal incidentaloma, identified prospectively 12 years ago, was followed up clinically and radiologically. A further group of 16 patients was also identified. All had lesions >1 cm. For both cohorts, characteristics of patients (genotype, age at diagnosis, concomitant diagnoses) and incidentaloma (size, laterality, rate of growth, outcome) are described. RESULTS: Overall, 3 of 30 patients underwent adrenalectomy; one patient had pheochromocytoma and another had an adenoma of borderline malignancy. A further three lesions were radiologically suspicious for malignancy at the time of diagnosis; one was in a patient who was unfit for surgery but died of nonadrenal causes after nine years. None of the lesions radiologically benign at diagnosis showed an aggressive course, but one patient required referral for surgery after 12 years because of a slow increase in size of the lesion. There were no associations with genotype. CONCLUSIONS: Familial adenomatous polyposis-associated adrenal incidentaloma may warrant long-term follow-up. Although the natural history is similar to lesions occurring sporadically, these patients have concomitant familial adenomatous polyposis-associated manifestations under radiologic surveillance. In this rare condition, development of a robust protocol will require evidence from worldwide patient cohorts. However, a tailored schema is suggested as a consistent basis for future modification.

APC mutation spectrum in ileoanal pouch polyps resembles that of colorectal polyps.

BACKGROUND: Ileoanal pouch polyps commonly develop following restorative proctocolectomy in patients with familial adenomatous polyposis (FAP). In FAP adenomas, the relationship between germline and somatic adenomatous polyposis coli (APC) mutations is determined by 'just right' beta-catenin signalling in tumour cells, with respect to the 20-amino acid beta-catenin-binding/degradation repeats (20AARs) in the APC protein. However, the relationship varies, with upper gastrointestinal polyps typically retaining three to four 20AARs and colonic polyps retaining one or two. The aim of this study was to establish the mutational spectrum in ileoanal pouch polyps, to ascertain whether polyp development resembled that typical of small or large bowel. METHODS: Some 151 pouch adenomas were screened from 46 patients with known germline APC mutations for 'second hits' acquired through loss of heterozygosity and truncating mutations. The number of 20AARs remaining after the 'second hit' was calculated. RESULTS: Loss of heterozygosity was rare in pouch polyps except when the germline mutation left one 20AAR. Overall, the combined alleles left two to three 20AARs in 40 of 51 polyps with an identified 'second hit'. This was significantly fewer than in upper gastrointestinal polyps, and more than in colorectal adenomas. CONCLUSION: Tissue environment appears to influence the position of the 'second hit' in pouch polyps and the mutations resemble those of large bowel polyps.

Comparison of outcomes of ileal pouch-anal anastomosis for familial adenomatous polyposis with and without previous ileorectal anastomosis.

BACKGROUND: It is reported that previous colectomy and ileorectal anastomosis (IRA) has no effect on postoperative complications and functional outcomes of secondary proctectomy and ileal pouch-anal anastomosis (IPAA) in patients with familial adenomatous polyposis (FAP). This retrospective study re-examined the question in a single centre. METHODS: Some 185 patients were grouped by either IPAA as the initial prophylactic surgical procedure (primary IPAA) or IPAA preceded by IRA (secondary IPAA). Data on functional outcomes were available for 104, 83 and 56 patients at years 1, 5 and 10 respectively. RESULTS: The 78 patients who had secondary IPAA were older at the time of operation than the 107 who underwent primary IPAA (35.7 versus 29.2 years; P < 0.001). Six (8 per cent) of the secondary IPAA procedures could not be completed. Otherwise, apart from more wound infections in the secondary IPAA group (9 versus 0.9 per cent in the primary IPAA group; P = 0.012), there were no significant differences in rates of complications, functional outcomes, desmoid disease or pouch failure. CONCLUSION: Conversion from IRA to IPAA may not be possible in patients with FAP. Where conversion is successful, pouch outcomes are similar but wound infections are more frequent.