Quality of Life After Ileal Pouch-Anal Anastomosis and Ileorectal Anastomosis in Patients With Familial Adenomatous Polyposis

PURPOSE Differences in conventional outcomes such as functional results and the rate of complications have caused a controversy about whether the ileal pouch anal anastomosis or the ileorectal anastomosis is the preferred surgical treatment for patients with familial adenomatous polyposis. We therefore sought to ascertain not only the surgical results but also the perceptions of patients about their outcomes. METHODS Between 1981 and 1998, 152 patients at our institution had an ileal pouch-anal anastomosis and 32 patients had an ileorectal anastomosis for familial adenomatous polyposis. Of these 184 patients, 173 were sent a study-specific quality-of-life questionnaire and the Short Form 36 health survey to determine their health-related quality of life. RESULTS Ninety-four ileal pouch patients and 21 ileorectal patients returned the surveys. No difference was found in early postoperative complications, 5-year probability for complications, or functional results after either procedure. On the Short Form 36 health survey, the ileorectal patients had a lower mental health summary score compared with that of the ileal pouch patients but a similar physical health summary score. The study-specific questionnaire found both groups to have a comparable quality of life. CONCLUSION Because ileal pouch-anal anastomosis has the advantage of removing as much at-risk tissue as possible with similar functional results and better mental health, it may be considered the preferred operation for most patients with familial adenomatous polyposis. Presented at the 18th World Congress of Digestive Surgery, Hong Kong, China, December 8 to 11, 2002.     

Colectomy and Ileorectal Anastomosis is still an Option for Selected Patients with Familial Adenomatous Polyposis

Purpose  The risk of rectal cancer after colectomy and ileorectal anastomosis may be reduced in the last decades, as patients with severe polyposis now have an ileoanal pouch. We have reevaluated the risk of rectal cancer and proctectomy for all causes according to the year of operation. Methods  On the basis of the year of operation in 776 patients with ileorectal anastomosis and 471 pouch patients in Denmark, Finland, Holland, and Sweden, the “pouch period” was defined to start in 1990. Ileorectal anastomosis follow-up data was captured by May 31, 2006. The cumulative risk of rectal cancer and proctectomy was compared before and after 1990 by Kaplan-Meier analysis. Results  In the prepouch period 56/576 patients (10 percent) developed rectal cancer, vs. 4/200 (2 percent) in the pouch period. Neither the cumulative risk of rectal cancer (p = 0.07) nor the cumulative risk of proctectomy (p = 0.17) changed. However, in females the cumulative risk of rectal cancer (p = 0.04) and of proctectomy (p = 0.03) were lower in the pouch period. Conclusions  Since the introduction of the ileoanal pouch rectal cancer has decreased after ileorectal anastomosis, but only statistically significant in females. This indicates that ileorectal anastomosis may still be justified in selected patients with mild adenomatosis, especially in young females. Presented at the meeting of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), Yokohama, Japan, March 28 to 30, 2007. Reprints are not available.     

Impact of Surgery on the Development of Duodenal Cancer in Patients with Familial Adenomatous Polyposis

Purpose Precancerous duodenal lesions in patients with familial adenomatous polyposis can be detected with duodenoscopy and treatment may prevent the development of cancer. We proposed to determine the frequency, natural history, cumulative risk, and risk factors of the precancerous duodenal lesions in a series of patients diagnosed in northern Italy. Methods A prospective, endoscopic, follow-up protocol was performed in 50 patients examined by gastroduodenoscopy at two years of interval or less. The presence and severity of precancerous lesions of the duodenal mucosa were evaluated by Spigelman score. Twenty-five patients (50 percent) had proctocolectomy and ileoanal anastomosis, 15 (30 percent) had colectomy and ileorectal anastomosis, and 5 (10 percent) had proctocolectomy and definitive ileostomy from 0 to 3 years before the admission to the surveillance program. All patients showed more than a thousand adenomas in the colorectal mucosa. No patients with attenuated polyposis were found. Results At the first endoscopy, duodenal adenomas could be detected in 19 of 50 patients (38 percent), whereas at the end of the follow-up, 43 (86 percent) had duodenal lesions. The final mean Spigelman score increased during the follow-up period (P<0.001 respect to baseline values). No duodenal cancer could be detected. Eleven patients had or developed severe precancerous duodenal lesions (Stage IV) treated with endoscopic or surgical resection. The distribution of patients with Stage IV according to the surgery of the colon was: 2 of 25 treated with ileoanal anastomosis and 8 of 15 with ileorectal anastomosis (P=0.0024, Fisher’s exact test). Conclusions Patients with familial adenomatous polyposis are at risk of significant neoplasia. The natural history of precancerous lesions might be related to surgical treatment of colorectal neoplasms.     

Segmental <Emphasis Type="Italic">vs.</Emphasis> Extended Colectomy: Measurable Differences in Morbidity,Function, and Quality of Life

Purpose  The colon coordinates fecal elimination while reabsorbing excess fluid. Extended colonic resection removes synchronous and prevents metachronous disease but may adversely alter bowel function and health-related quality of life to a greater degree than segmental resection. This study examined the short-term morbidity and long-term function and quality of life after colon resections of different extents. Methods  Patients undergoing extended resections (n = 201, subtotal colectomy with ileosigmoid or total abdominal colectomy with ileorectal anastomosis) and segmental colonic resections (n = 321) during 1991 to 2003 were reviewed for perioperative outcomes and surveyed for bowel function and quality of life using an institutional questionnaire and a validated quality of life instrument (response rate: 70 percent). Results  The most common indication for extended resections was multiple polyps, and for segmental resections, single malignancy. The complication-free rate was 75.4 percent after segmental resections, 42.8 percent after ileosigmoid anastomosis, and 60 percent after ileorectal anastomosis. Median daily stool frequency was two after segmental resections, four after ileosigmoid anastomosis, and five after ileorectal anastomosis, despite considerable dietary restrictions (55.6 percent) and medication use (19.6 percent daily) after ileorectal anastomosis. Significant proportions of patients felt restricted from preoperative social activity (31.5 percent), housework (20.4 percent), recreation (31.5 percent), and travel (42.6 percent) after ileorectal anastomosis. The overall quality of life after segmental resection, ileosigmoid anastomosis, and ileorectal anastomosis was 98.5, 94.9, and 91.2, respectively. Conclusions  Measurable compromises in long-term bowel function and quality of life were observed after extended vs. segmental resections. The relative differences in patient-related outcomes should be deliberated against the clinical benefits of extended resection for the individual patient. Presented at the Tripartite Colorectal Meeting, Dublin, Ireland, July 5 to 7, 2005.     

Gardner＇s syndrome： Genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas： A case report

We present a case of a 25-year-old female with diagnosed familial adenomatous polyposis and elevated carcinoembryonic antigen with negative family history. The suspicion of Gardner＇s syndrome was raised because extirpation of an osteoma of the left temporo-occipital region was made 10 years ago. Restorative procto- colectomy and ileal pouch anal anastomosis was made but histology delineated adenocarcinoma of the rectum （Dukes C stage）. We conclude that cranial osteomas often precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner＇s syndrome and such patients should be evaluated with genetic testing followed by colonoscopy if results are positive to prevent the development of colorectal carcinoma. If the diagnosis is positive all family members should be evaluated for familial adenomatous polyposis.     

Diagnosis and treatment of Gardner syndrome with gastric polyposis： A case report and review of the literature

Gardner syndrome （GS） is an autosomal dominant disease characterized by the presence of colonic polyposis, osteoma and soft tissue tumors. It is regarded as a clinical subgroup of familial adenomatous polyposis （FAP） and may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a 23-year-old female patient with GS who presented with gastric polyposis and was successively treated with restorative proctocolectomy in combination with ileal pouch anal anastomosis （RPC/ IPAA）, ileostomy, ileostomy closure operation, snare polypectomy during 8 mo. After operation, the patient took oral traditional Chinese medicine pills made of Fructus mume and Bombyx batryticatu for about 6 mo. The innutrition and anaemia of this patient were gradually improved. Gastroscopy showed that the remnant gastric polypi gradually decreased and finally disappeared 19 mo after the first operation. The patient had 2-3 times of solid stool per day at the time we wrote this paper.     

On the Benefit of Probiotics in the Management of Pouchitis in Patients Underwent Ileal Pouch Anal Anastomosis: A Meta-analysis of Controlled Clinical Trials

The objective of this study was to evaluate and collect current evidence on the effect of probiotics in preventing pouchitis after restorative ileal pouch anal anastomosis (IPAA). The Pubmed, Medline, EMbase, CINAHL, Web of Science, and Scopus bibliographic, and Google Scholar databases were searched between 1966 and May 2007, and relevant controlled clinical trials were extracted, reviewed, and validated according to the study protocol. The outcome of interest was for pouchitis defined by a pouchitis disease activity index (PDAI) ≥7. Five randomized, placebo-controlled clinical trials were included in the meta-analysis. Pooling of the results from these trials yielded an odds ratio (OR) of 0.04 with a 95% CI of 0.01–0.14 (P < 0.0001) in the treatment group in comparison with the placebo group. In conclusion, the benefit of probiotics in the management of pouchitis after IPAA operation was confirmed by the meta-analysis.     

Pouchitis in pediatric ulcerative colitis: A multicenter study on behalf of Italian Society of Pediatric Gastroenterology,Hepatology and Nutrition

BackgroundData on the epidemiology and risk factors for pouchitis following restorative proctocolectomy and ileal pouch-anal anastomosis (IPAA) in pediatric patients with ulcerative colitis (UC) are scarce.AimsTo determine incidence, risk factors and clinical outcome of pouchitis following IPAA in children.MethodsThis multicenter, retrospective cohort study, included all pediatric UC patients who underwent colectomy and IPAA from January 2010 to December 2016.ResultsEighty-five patients were enrolled. During a median post-surgical period of 24.8 (range: 1.0–72.0) months following IPAA, 38 (44.7%) patients developed pouchitis, including 6 (15.8%) who developed chronic pouchitis. Kaplan–Meier survival estimates of the cumulative probability for pouchitis were 14.6% at 1 year and 27.3% and 51.5% at 2 and 5 years, respectively. Multiple Cox regression model showed that older age at colectomy (hazard ratio, HR: 0.89, p = 0.008) was a protective factor, whereas chronic active colitis as indication for surgery (HR: 4.45, p < 0.001), and a 3-stage IPAA (HR: 2.86, p = 0.028) increased the risk for pouchitis.ConclusionsLong-term risk for pouchitis is significantly high in pediatric-onset UC after IPAA. Younger age at colectomy, chronic active colitis as indication for surgery and 3-stage IPAA may increase the risk for pouchitis.     

Analysis of PTEN Gene Mutations in Korean Patients With Cowden Syndrome and Polyposis Syndrome

PURPOSE PTEN (phosphatase and tensin homologue deleted in chromosome 10) is a candidate tumor suppressor gene. Mutations of this gene are responsible for PTEN hamartoma tumor syndromes, including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus -like syndromes. Recently, PTEN mutations were identified in several human neoplasms. We analyzed the DNA of various organs and lesions in Korean patients with Cowden syndrome, their family members, and patients with familial adenomatous polyposis for germline or somatic PTEN mutations.METHODS The 11 patients included in this study were 5 patients with Cowden syndrome, 4 of their family members, and 2 patients with familial adenomatous polyposis. Deletions and mutations in exons 1 to 9 of the PTEN gene were evaluated by polymerase chain reaction-single strand conformation polymorphism and sequencing analysis in esophageal acanthosis, gastric polyps, colonic polyps, skin lesions, and peripheral blood mononuclear cells. To exclude common polymorphisms, 240 controls were tested.RESULTS All patients with Cowden syndrome showed several to numerous polyps in the gastrointestinal tract. A missense mutation at codon 217 (GTC to GAC, Val to Asp) in exon 7 was identified in one Cowden syndrome patient, and a nonsense mutation at codon 211 (TGC to TGA, Cys to stop) in exon 6 was identified in a second patient. Identical mutations were found in all tissue samples, including colonic polyps, from each patient. No PTEN mutations were found in their family members or in any patient with familial adenomatous polyposis. None of tested controls contained a mutation.CONCLUSIONS We have identified two new germline PTEN mutations in Korean patients with Cowden syndrome. Mutations in the introns and regulatory regions of the PTEN gene may be present in additional patients with Cowden syndrome and polyposis syndrome.Supported by a grant (Grant number 2003-261) from the Asan Institute for Life Sciences, Seoul, Korea.Reprints are not available.Presented at the meeting of International Gastrointestinal Bioregulation Conference, Hyogo, Japan, March 27, 2004.     

Atrophy and Neoplastic Transformation of the Ileal Pouch Mucosa in Patients With Ulcerative Colitis and Primary Sclerosing Cholangitis

INTRODUCTION: Patients with ulcerative colitis and primary sclerosing cholangitis have an increased risk of developing carcinoma both in the bile ducts and in the colon. PURPOSE: To investigate whether this patient group also has an increased risk of developing atrophy and neoplasia in the ileal pouch mucosa after construction of a pelvic pouch with an ileoanal anastomosis or a continent Kock ileostomy. METHODS: Flexible video endoscopic examinations of the ileal pouch were performed in 16 patients with ulcerative colitis and primary sclerosing cholangitis and in 16 matched patients with ulcerative colitis without sclerosing cholangitis. Biopsies were sampled from different locations in the pouch for histologic assessment of mucosal atrophy and dysplasia and for flow cytometric DNA analysis assessing chromosomal aberrations. RESULTS: The patients with sclerosing cholangitis developed moderate or severe atrophy in the pouch significantly more often (P < 0.01). Persistent severe mucosal atrophy was revealed in eight patients with sclerosing cholangitis and only in two controls. One patient with sclerosing cholangitis had high-grade dysplasia in multiple locations. Low-grade dysplasia was assessed in three patients with sclerosing cholangitis and in two of the controls. DNA aneuploidy was displayed in three patients, all with sclerosing cholangitis and dysplasia. All patients with neoplastic transformation had a pouch with ileoanal anastomosis and a long pouch duration (> 8 years). CONCLUSION: Patients with ulcerative colitis and primary sclerosing cholangitis with an ileal reservoir are more prone to developing mucosal atrophy in the pouch and seem to have a higher risk of neoplastic transformation in the pouch mucosa than patients with ulcerative colitis without sclerosing cholangitis.     

Surgical treatment of ulcerative colitis in the biologic therapy era

Recently introduced in the treatment algorithms and guidelines for the treatment of ulcerative colitis, biological therapy is an effective treatment option for patients with an acute severe flare not responsive to conventional treatments and for patients with steroid dependent disease. The reduction in hospitalization and surgical intervention for patients affected by ulcerative colitis after the introduction of biologic treatment remains to be proven. Furthermore, these agents seem to be associated with increase in cost of treatment and risk for serious postoperative complications. Restorative proctocolectomy with ileal pouch-anal anastomosis is the surgical treatment of choice in ulcerative colitis patients. Surgery is traditionally recommended as salvage therapy when medical management fails, and, despite advances in medical therapy, colectomy rates remain unchanged between 20% and 30%. To overcome the reported increase in postoperative complications in patients on biologic therapies, several surgical strategies have been developed to maintain long-term pouch failure rate around 10%, as previously reported. Surgical staging along with the development of minimally invasive surgery are among the most promising advances in this field.     

Transient Apical Thickening Following Apical Ballooning Syndrome: A Case Series

The authors describe transient apical thickening mimicking apical hypertrophic cardiomyopathy following apical ballooning syndrome. These findings are observed on multimodality cardiac imaging and appear to constitute a novel entity. Possible pathophysiologic mechanisms are explored.     

Afatinib in Treatment-Naive Patients With EGFR-Mutated Lung Adenocarcinoma With Brain Metastasis: A Case Series

Tyrosine kinase inhibitors (TKIs) of epidermal growth factor receptor (EGFR) were previously the standard first-line treatments for lung cancers with activating EGFR mutations. The first-generation reversible EGFR TKIs, gefitinib and erlotinib, demonstrated substantial efficacy in the treatment of brain metastases from EGFR-mutated lung adenocarcinoma. However, the efficacy of afatinib, the second-generation irreversible EGFR TKI, as the first-line treatment in lung adenocarcinoma patients with brain metastasis has yet to be evaluated.Here, we report cases of 3 patients who received afatinib alone as the first-line treatment in combination with whole-brain radiotherapy or following surgical resection of brain metastases. All 3 patients had EGFR L858R mutation. The first patient had lung adenocarcinoma with brain metastasis and no neurologic symptoms. After consultation, she received afatinib as a first-line treatment. Chest computed tomography and brain magnetic resonance imaging (MRI) showed partial response. The second patient had lung adenocarcinoma accompanied with a metastatic brain lesion associated with seizures. This patient received whole-brain radiotherapy and afatinib treatment following brain MRI and subsequently showed significant regression of the brain metastasis. The third patient had strabismus of the right eye, and brain MRI showed a single tumor at the cerebellar pontine angle. This patient underwent surgical resection of the tumor followed by afatinib treatment. He refused adjuvant radiotherapy after surgery for brain metastasis. The brain MRI showed no recurrent brain metastasis, and the patient had relatively less neurologic deficiency.This series of 3 cases indicate that afatinib may be an appropriate first-line treatment alternative in patients having lung adenocarcinoma with EGFR mutations. Further retrospective analyses and prospective clinical trials are required to substantiate the efficacy of afatinib in the treatment of brain metastases of lung adenocarcinoma.     

A Case Report of Successful Treatment With Plasma Exchange for Hemophagocytic Syndrome Associated With Severe Systemic Juvenile Idiopathic Arthritis in an Infant Girl

Abstract: An infantile case of hemophagocytic syndrome (HPS) with systemic juvenile idiopathic arthritis (s-JIA), refractory to methylprednisolone pulse therapy and cyclosporine A administration, was successfully treated by plasma exchange. The patient was a one-year-old Japanese girl who had developed recurrent steroid-dependent signs, including fever, skin eruption, and hepatopathy, while in France, where she had been diagnosed as having s-JIA at eight months of age. As a high fever and rheumatoid rash were evident on arrival at our hospital, she was admitted and given intravenous methylprednisolone pulse therapy and cyclosporine A. She developed pancytopenia with a generalized clonic seizure, high fever, and liver dysfunction after her cytomegalovirus (CMV) titer became positive during the course of treatment; therefore, she was treated with ganciclovir. She was subsequently diagnosed as having HPS complicating s-JIA from the findings of a bone marrow aspirate. At this time, her blood examination data including a high level of C-reactive protein and hyperferritinemia, suggested that her s-JIA was very active, and the pancytopenia continued after her CMV titer became negative. Therefore, CMV infection against a background of active s-JIA could have triggered the HPS in this case. Because the HPS was resistant to an immunosuppressive regime of methylprednisolone pulse therapy and cyclosporine A, plasma exchange therapy was started. After three sessions of this therapy, the patient's symptoms and laboratory data were markedly improved. Our experience suggests that plasma exchange should be considered as a therapeutic tool for HPS refractory to conventional therapy.