Current management status of hereditary colorectal cancer / 中华胃肠外科杂志

Hereditary colorectal cancer accounts for approximately 5% of all colorectal cancer cases, mainly including familial adenomatous polyposis and Lynch syndrome. Total proctocolectomy plus ileal pouch-anal anastomosis and total colectomy plus ileorectal anastomosis are two major procedures for familial adenomatous polyposis, however, the exact impact of these two procedures on surgical efficacy, oncologic efficacy as well as functional results still remains uncertain. Segmental colectomy and total colectomy are two major procedures for Lynch syndrome, each of them both has advantages and disadvantages, and there still lacks a consensus about the optimal strategy because of the nature of retrospective study with a relatively insufficient evidence support. As a result, we would make a review about the current surgical treatment status and future perspectives of hereditary colorectal cancer.

Surgical results and quality of life of patients submitted to restorative proctocolectomy and ileal pouch-anal anastomosis / Resultados cirúrgicos e qualidade de vida de pacientes submetidos à proctocolectomia total e reservatório ileoanal

ABSTRACT Purpose: restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the surgical procedure of choice in some cases of familial adenomatous polyposis (FAP) and ulcerative colitis (UC). IPAA allows complete removal of the diseased colon and rectum, however, it is associated with substantial morbidity and potential consequences to patients' quality of life (QoL). Aims: to evaluate the surgical results, functional outcomes and QoL after IPAA; and to examine the impact of surgical complications upon QoL. Methods: we reviewed the records of 55 patients after IPAA, with emphasis on surgical outcomes. Forty patients answered the questionnaires. The Cleveland Global Quality of Life (CGQL), Inflammatory Bowel Disease Questionnaire (IBDQ), and Short Form 36 Health Survey Questionnaire (SF36). Results: the average age was 42.1±14.1 years. 63.6% of the patients were male, and 69.1% had FAP. Operative mortality was 1.8% and overall morbidity was 76.4%. Anastomotic leakage was the most frequent early complication (34.5%). Pouchitis (10.8%) and small bowel obstruction (9.1%) were the most common late complications. Patients with UC had the most severe complications (p=0.014). Pelvic complications did not have a negative effect on functional outcomes or QoL scores. Female patients had decreased pouch evacuation frequency, fewer nocturnal bowel movements, decreased bowel symptom impact on QoL (p=0.012), and better CGQL (p=0.04). Patients with better education had better QoL scores, and patients who had their pouches for more than five years scored lower. Conclusion: the high morbidity has no impact on function or QoL. Bowel function is generally acceptable. QoL is good and affected by sex, education and time interval since IPAA.

RESUMO Objetivo: a Proctocolectomia com reservatório ileoanal (PCT-RIA) é método de escolha em alguns casos de Polipose Adenomatosa Familiar (PAF) e Retocolite Ulcerativa (RCU). Embora tenha potencial curativo, apresenta morbidade considerável e pode afetar a qualidade de vida (QV) dos pacientes. Objetivos: avaliar resultados cirúrgicos e impacto das complicações pélvicas na função intestinal e QV. Métodos: foram avaliados retrospectivamente 55 pacientes submetidos a PCT-RIA, de janeiro de 2003 até abril de 2017, com ênfase na técnica operatória e morbidade. Quarenta pacientes responderam aos questionários Cleveland Global Quality of Life (CGQL), Inflammatory Bowel Disease Questionnaire (IBDQ) e Short Form 36 Health Survey Questionnaire (SF36). Resultados: A média de idade foi 42,1±14,1 anos, sendo 63,6% do sexo masculino e 69,1% com diagnóstico de PAF. A mortalidade cirúrgica foi 1,8% e morbidade 76,4%. Fístula anastomótica foi a complicação precoce mais frequente (34,5%) e, as tardias foram bolsite (10,8%) e obstrução intestinal (9,1%). As complicações precoces mais graves foram mais frequentes em pacientes com RCU (p=0,014). Não houve impacto das complicações na função intestinal nem na QV. As mulheres apresentaram menor frequência evacuatória e noturna, menor interferência dos sintomas intestinais na QV (p=0,012) e CGQL mais elevado (p=0,04). Melhor QV foi referida pelos pacientes com maior escolaridade e, foi observada piora em pacientes com mais de cinco anos de confecção do RIA. Conclusões: não se evidenciou impacto das complicações na função intestinal nem na QV. A função intestinal é satisfatória e a QV é boa na maioria dos pacientes, sendo influenciada pelo sexo, escolaridade e tempo de confecção do RIA.

Diagnóstico de Cáncer Colorrectal en paciente con sospecha de Poliposis Adenomatosa Familiar / Diagnosis of colonrectal cancer in patient with suspicion of Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is a rare, hereditary disease whose main characteristic is the presence of a large number of polyps in the colon and rectum, which, in the absence of timely treatment, 100% progresses to colorectal cancer. The early diagnosis of this condition is the pillar of the prevention of complications. We present the case of a patient with a low digestive tract syndrome, without previous diagnosis, who after a careful review of clinical and family history, the diagnosis of PAF and later colorectal cancer, is reached. A review of the literature on current advances and recommendations on this disease is made.

A novel approach to lower rectal anastomosis: technique innovation and the preliminary report of twenty cases / Uma nova abordagem para a anastomose retal mais baixa: inovação técnica e relatório preliminar de cinte casos

Background and aims: To describe a practical technique innovation (transanal 'Pull-through' approach) as a feasible, safe and effective alternative to the conventional transabdominal stapler low rectal anastomosis in lesions of minimal anatomical distinction from the adjacent intact mucosa. Material and methods: Prospective case-series of patients with low rectal cancers, familial adenomatous polyposis (FAP) and ulcerative colitis undergoing Pull-through transection and very low rectal anastomosis using linear TA-90 noncutting stapler and circular stapler-cutter. Results: In this series, twenty patients (11 men and 9 women) underwent proctectomy by the transanal Pull-through technique. Barring one of the patients that developed a pelvic abscess in the immediate postop follow-up, surgical procedure and the long-term follow-up period was uncomplicated with no critical findings of leakage, stenosis and bleeding. The postop rate of infection and fecal incontinence was not significantly different between genders and different age groups of the study. The mean operative time was calculated 169.9 ± 11.1 minutes. Conclusion: Pull-through transection procedure using the TA-90 non-cutting stapler is a safe, efficient and economically sound technique implicated in low-lying rectal lesions. The transanal 'Pull-through' approach is particularly helpful in situations where the direct visualization of lower rectal mucosa changes the prognosis through determining the marginal extent of intact/involved mucosa (e.g., FAP, villous adenomas, rectal polyps and post-neoadjuvant chemoradiotherapy tumors).

Experiência e objetivos: Descrever uma inovação técnica prática (abordagem transanal pull-through) como uma alternativa viável, segura e eficaz à anastomose transabdominal retal baixa convencional com grampos em lesões com mínima diferenciação anatômica com respeito à mucosa intacta adjacente. Material e métodos: Estudo prospectivo de série de casos de pacientes com cânceres retais baixos, polipose adenomatosa familiar e colite ulcerativa submetidos à transecção pull-through e a uma anastomose retal muito baixa com o uso de um grampeador linear não cortante TA-90 e um grampeador cortante circular. Resultados: Nesta série, 20 pacientes (11 homens, 9 mulheres) foram submetidos a uma proctectomia pela técnica transanal pull-through. À exceção de um dos pacientes, que apresentou um abcesso pélvico no seguimento pós-operatório imediato, não ocorreram complicações com o procedimento cirúrgico e ao longo do prolongado período de seguimento, nem houve achados críticos de vazamento, estenose ou sangramento. O percentual de infecção e incontinência fecal no pós-operatório não foi significativamente diferente entre gêneros e nas diferentes faixas etárias dos pacientes envolvidos no estudo. O tempo cirúrgico médio foi de 169,9 ± 11,1 minutos. Conclusão: O procedimento de transecção pull-through com o uso do grampeador não cortante TA-90 é técnica segura, eficaz e economicamente confiável para uso em lesões retais baixas. A abordagem transanal pull-through tem particular utilidade em situações nas quais a visualização direta de alterações na mucosa retal mais baixa muda o prognóstico, mediante a determinação da extensão marginal da mucosa intacta/envolvida (p. ex., FAP, adenomas vilosos, pólipos retais e tumores pós-quimiorradioterapia neoadjuvante).

Se justifica el seguimiento después de una colectomía en pacientes con poliposis adenomatosa familiar / The follow up after colectomy in patients with familial adenomatous polyposis is justified

phenotypic expression is the presence of múltiple colorectal adenomatous polyps (more than 100), with high probability developing colorrectal cancer (CRC) before the fifth decade of life. Prophylactic surgery (total colectomy or restorative proctocolectomy) reduces the risk of developing CRC. However, the risk of developing tumors in other organs remains present. Objetive: Analyze the frequency and type of tumors associated with classic familial adenomatous polyposis syndrome (FAPc) patients undergoing prophylactic colectomy. Material and Methods: Cohort study. From the registry of hereditary colorrectal cancer (CRC) at our institution, we identified patients with FAPc who underwent total colectomy with ileorrectal anastomosis (TC-IRA) or restorative proctocolectomy (RTPC), from 1999 to 2014. In the follow-up we analyzed related tumors and mortality. Results: 27 patients, of whom 18 (66.7%) underwent TC-IRA and 9 (33.3%) underwent RTPC. At the time of surgery, 4 patients had CRC (15%) and 5 had extracolonic tumors (osteomas). In a mean follow-up of 49, 4 months (i: 2 y 178) the following lesions were diagnosed: digestive tract adenomas in 17 (63%) patients, of these 2 required a proctectomy and 3 resection of duodenal adenomas. Eight patients developed desmoid tumors (30%), and 3 of them underwent surgery. One patient had an extradigestive tumor (thyroid cancer) and only 8/27 (29.6%) did not develop other tumors. One patient died due to progression of his CCR. Discussion: In this series it is confirmed that most patients will develop neoplasms FAPc after colectomy. conclusion: The removal of the colon and/or rectum is able to prevent the development of CRC. However, two thirds of the patients develop other tumors in which systematic surveillance allowed early detection and treatment.

Objetivo: Analizar la frecuencia y tipo de tumores asociados en pacientes con poliposis adenomatosa familiar clásica (PAFc) sometidos a una colectomía profiláctica. Materiales y Métodos: Estudio de cohorte. Desde el registro de cáncer colorrectal (CCR) hereditario, se identificaron las familias con PAFc, y de estas a los pacientes que se les practicó una colectomía total con anastomosis íleorrectal (CT-AIR) o proctocolec-tomía restauradora (PCTR), desde 1999 al 2014. En el seguimiento se analizaron los tumores asociados y su mortalidad. Resultados: Se identificaron 27 pacientes, de los cuales 18 (66,7%) fueron sometidos a CT-AIR y 9 (33,3%) a PCTR. Al momento de la cirugía, 4 pacientes presentaban CCR (15%) y 5 tenían tumores extracolónicos (osteomas). En un seguimiento promedio de 49,4 meses (i: 2 y 178) se diagnosticaron: adenomas del tracto digestivo en 17 (63%) pacientes, de éstos 2 requirieron una proctectomía y 3 resecciones de adenomas duodenales. Ocho pacientes desarrollaron tumores desmoides (30%), y 3 de ellos fueron sometidos a una cirugía. Un paciente presentó un tumor extradigestivo (cáncer de tiroides) y sólo 8/27 (29,6%) pacientes no desarrollaron otros tumores. Un paciente falleció por progresión de su CCR. Discusión: En esta serie se confirma que la mayoría de los pacientes con PAFc seguirán desarrollando neoplasias después de su colectomía. conclusiones: La extirpación del colon y/o recto permitió evitar el desarrollo de CCR. Sin embargo, dos tercios de los pacientes presentaron otros tumores en quienes su seguimiento permitió una detección y tratamiento temprano.

Colectomías totales videolaparoscópicas / Videolaparoscopic total colectomy

Introducción: la resección laparoscópica del colon fue informada por primera vez en 1990 por Moisés Jacobs y Gustavo Plascencia. Las colectomías totales son procedimientos complejos indicados en pacientes con enfermedades como la poliposis múltiple familiar y la colitis ulcerativa idiopática. El abordaje laparoscópico ofrece beneficios importantes al paciente con respecto a la cirugía convencional, incluyendo menor riesgo de recurrencia del tumor en los casos con cáncer. Objetivo: describir los resultados quirúrgicos obtenidos con colectomía total videolaparoscópica. Métodos: se realizó un estudio descriptivo de una serie consecutiva de 14 pacientes a los cuales se les practicó colectomías totales videolaparoscópicas en el Centro Nacional de Cirugía de Mínimo Acceso, en el período comprendido entre enero de 2005 a agosto de 2012. Las variables en estudio fueron: la edad, sexo, indicación quirúrgica, tiempo quirúrgico, necesidad de transfusión intraoperatoria, estadía hospitalaria, complicaciones transoperatorias y postoperatorias. La información se obtuvo de las historias clínicas individuales. Se emplearon porcentajes, promedios y desviación estándar, mediana y rango intercuartílico para muestras asimétricas, como medidas de resumen de las variables empleadas. Resultados: las indicaciones quirúrgicas fueron: poliposis múltiple familiar y colitis ulcerativa idiopática. Predominó el sexo femenino. El rango de edad estuvo comprendido de 16 a 76 años. El tiempo quirúrgico promedio fue de 265 ± 54,7 minutos. No existieron complicaciones transoperatorias. Hubo seis pacientes con complicaciones posoperatorias, cuatro de ellas requirieron reintervención para su corrección, los pacientes evolucionaron favorablemente. Conclusiones: la colectomía total videolaparoscópica constituye un procedimiento factible y seguro para el tratamiento quirúrgico de la poliposis múltiple familiar y colitis ulcerativa idiopática(AU)

Introduction: laparoscopic colon resection was reported for first time in 1990 by Moisés Jacobs and Gustavo Plascencia. Total colectomy is a complex procedure for patients with Familial Multiple Polyposis (FMP) and Idiopathic Ulcerative Colitis(IUC). The laparoscopic approach provides important benefits to the patient as compared to the conventional surgery, including lower risk of tumor recurrence in cancer cases. Objective: to describe the surgical results from the used of the videolaparoscopic total colectomy. Methods: a descriptive study of a consecutive series of 14 patients who underwent videolaparoscopic total colectomy in the National Center of of Minimal Access Surgery in the period of January 2005 through August 2012. The study variables were age, sex, surgical indication, surgical time, transfusional requirements during surgery, stay at hospital, and transoperative and postoperative complications. The information was drawn from the individual medical histories. Percentages, means and standard deviations, medians and interquartile range were taken for asymmetric samples, in terms of summary measures of the used variables. Results: the surgical indications were familial multiple polyposis and idiopathic ulcerative colitis. Females predominated. The age range was 16 to 76 years. The average surgical time was 265.0 ± 54.7 minutes, with no transoperative complications. There were six patients with postoperative complications, four of them were reoperated on to correct the disorders, the patients successfully recovered. Conclusions: videolaparoscopic total colectomy is a feasible and safe procedure for the surgical treatment of familial multiple polyposis and for idiopathic ulcerative colitis(AU)

Poliposis adenomatosa familiar / Family adenomatous polyposis

La Poliposis Adenomatosa Familiar (PAF) es una enfermedad hereditaria autosómica dominante, se caracteriza por el desarrollo de pólipos adenomatosos en el intestino grueso (más de 100), que invariablemente evolucionan al cáncer. Los pólipos aparecen a partir de la pubertad y el cáncer sobreviene antes de los 50 años, por tanto requieren diagnóstico temprano y tratamiento inmediato. La proctocolectomía total es el tratamiento de elección. Se presentan una serie de seis casos atendidos desde febrero de 2012 a julio del 2013.

Familial Adenomatous Polyposis (FAP) is an autosomal dominant inherited disease, characterized by the development of adenomatous polyps in the large intestine (over 100), which invariably evolving cancer. Polyps appear after puberty and cancer occurs before age 50, thus requiring early diagnosis and immediate treatment. Total proctocolectomy is the treatment of choice. A series of six cases treated from February 2012 to July 2013 are presented.

The epidemiological and clinical features of familial adenomatous polyposis in Ribeirão Preto / Caracteristicas clínicas e epidemiológicas da polipose adenomatosa familiar em Ribeirão Preto

PURPOSE: to study 75 familial adenomatous polyposis (FAP) patients treated in a single institution in Ribeirão Preto/SP, from January 1981 to December 2011. METHODS: this is a retrospective study and the following data were collected: gender, age, main symptoms, familial history, coexisting malignancies, surgical treatment, surgical morbidity and mortality, factors related to life quality. RESULTS: median age was 29 years. Male-to-female ratio was 1.2:1. Bleeding was the most common symptom (62.6%). Colorectal cancer incidence was 25.5% (n = 19). Extracolonic neoplasia incidence was 8%. Colectomy with ileorectal anastomosis (IRA) was performed in 72% of the patients. Eighteen patients (24%) were submitted to proctocolectomy with "J-pouch" ileoanal anastomosis. In three patients (4%) proctocolectomy with terminal ileostomy was performed. Early and late complication rate were similar (22.7% × 24%). Ileal pouch surgery exhibited tendency to a higher morbidity and mortality but no significance could be found. Overall mortality rate was 7.46%. Malignant neoplasia was the main cause of mortality, accounting for 60% of deaths. CONCLUSION: FAP is a rare pathology in our country. Genetic counseling and proper screening programs are essential tools to early diagnosis and follow-up. Surgery is the most effective treatment and the best option to prevent malignant neoplasia. (AU)

OBJETIVO: analisar 75 pacientes com polipose adenomatosa familiar (PAF) tratados no Hospital das clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, entre janeiro de 1981 a dezembro de 2011. MATERIAIS E MÉTODOS: trata-se de estudo retrospectivo com coleta dos seguintes dados: sexo, idade, sintomas principais, história familiar, presença de malignidade, cirurgia realizada, morbidade e mortalidade cirúrgicas e fatores relacionados à qualidade de vida. RESULTADOS: a idade média encontrada foi de 29 anos. A razão entre os sexos foi de 1,2:1 com predomínio no sexo masculino. Sangramento intestinal foi o sintoma mais comum (62,7%). A incidência de câncer colorretal foi de 25,3% (n = 19). Neoplasias extracolônicas foram diagnosticadas em 8% dos pacientes. Colectomia total com íleo-reto anastomose (IRA) foi realizada em 72% (n = 54) dos pacientes. Proctocolectomia com anastomose ileoanal e bolsa ileal em "J" foi realizada em 24% (n = 18) dos casos e em 4% (n=3) dos pacientes optou-se pela proctocolectomia com ileostomia terminal (PCI). As taxas de complicações precoces e tardias foram semelhantes (22,7% × 24%). A cirurgia de bolsa ileal apresentou tendência a maior morbimortalidade, porém sem relevância estatística. A taxa geral de mortalidade foi de 7,46%. Neoplasias malignas foram responsáveis por 60% dos óbitos e complicações cirúrgicas por 40%. CONCLUSÕES: a PAF é uma patologia de baixa incidência no nosso país. O aconselhamento genético e o rastreamento familiar são instrumentos essenciais para o diagnóstico precoce e seguimento adequado. A cirurgia persiste como melhor opção para prevenção do câncer colorretal e tratamento da doença. (AU)

Reconstrucción anorrectal total luego de una coloproctectomía: resultados funcionales / [Total anorectal reconstruction after proctocolectomy: surgical results and functional outcome].

The aim of this report is to describe a novel technical approach to total anorectal reconstruction and show surgical results and functional outcome. The technique is an innovative surgery to restore gastrointestinal perineal continuity after coloproctectomy in patients with familial adenomatous polyposis. We made the internal anal sphincter replacement with demucosated small bowel plication, the external anal sphincter replacement with an artificial bowel sphincter (ABS) and the restitution of intestinal transit with and ileal "S" pouch. After 12 months follow-up the control of gas is irregular, normal continence to solid stool was achieved with only occasional minimal soiling after defecation. The Jorge-Wexner incontinence score is 6 (moderate incontinence). The fecal incontinence quality of life (FIQL) comparing stoma vs. non-stomas, shows a relevant clinical difference, with improvement in all scales. This study has limitations because it is preliminary, observational and with no control group. We conclude that this recent surgical technique requires expertise in pelvic floor surgery and management of fecal incontinence. The surgeon should be able not only to introduce an artificial anal sphincter, but also to make the plication of intestinal muscle layer to create a zone of high pressure in anal canal and the ileal pouch.

Proctocolectomy and ileal J-pouch anal anastomosis on the surgical treatment of familial adenomatous polyposis and ulcerative colitis: analysis of 49 cases

OBJECTIVE: To evaluate the results of ileal J-pouch anal anastomosis in ulcerative colitis and familial adenomatous polyposis. METHOD: Retrospective analysis of medical records of 49 patients submitted to ileal J-pouch anal anastomosis. RESULTS: Ulcerative colitis was diagnosed in 65% and familial adenomatous polyposis in 34%. Mean age was 39.5 years. 43% were male. Among familial adenomatous polyposis, 61% were diagnosed with colorectal cancer. Thirty-one percent of patients with ulcerative colitis was submitted to a previous surgical approach and 21% of these had toxic megacolon. Average hospital stay was 10 days. Post-operative complications occurred in 50% of patients with ulcerative colitis and 29.4% with familial adenomatous polyposis. Intestinal diversion was performed in 100% of ulcerative colitis and 88% of familial adenomatous polyposis. Pouchitis occurred in eight cases (seven ulcerative colitis and one FAP), requiring excision of the pouch in three ulcerative colitis. Mortality rate was 7.6%: two cases of carcinoma on the pouch and two post-operative complications. Late post-operative complications occurred in 22.4%: six familial adenomatous polyposis and five ulcerative colitis). Two patients had erectile dysfunction, and one retrograde ejaculation. One patient with severe perineal dermatitis was submitted to excision of the pouch. Incontinence occurred in four patients and two reported soil. Mean bowel movement was five times a day. CONCLUSION: Ileal J-pouch anal anastomosis is a safe surgery with acceptable morbidity and good functional results, if well indicated and performed in referral centers. (AU)

OBJETIVO: Avaliar resultados da anastomose íleo-anal com bolsa ileal em J na colite ulcerativa e na polipose adenomatosa familiar. MÉTODO: Análise retrospectiva dos prontuários de 49 pacientes submetidos a anastomose íleo-anal com bolsa ileal em J. RESULTADOS: 65% de colite ulcerativa e 34% de polipose adenomatosa familiar. Idade média de 39,5 anos. Gênero masculino perfez 43% da amostra. Na polipose adenomatosa familiar, 61% tinham diagnóstico prévio de câncer colorretal. Na colite ulcerativa, 31% tiveram abordagem cirúrgica prévia (21% por megacólon tóxico). O tempo médio de internação foi de 10 dias. Complicações pós-operatórias ocorreram em 50% das colites ulcerativas e 29,4% de polipose adenomatosa familiar. Foi realizada ileostomia em 100% das colites ulcerativas e 88% das poliposes adenomatosas familiares. Bolsite ocorreu em oito casos: em sete colites ulcerativas e em uma polipose adenomatosa familiar, com ressecção da bolsa em três colites ulcerativas. Taxa de mortalidade de 7,6%: dois casos de câncer na bolsa e duas complicações pós-operatórias. Complicações tardias ocorreram em 22,4%: em seis poliposes adenomatosas familiares e cinco colites ulcerativas. Dois pacientes apresentaram disfunção erétil e uma ejaculação retrógrada. Um paciente teve dermatite perineal severa (realizada ressecção da bolsa). Foi observada incontinência em quatro pacientes e escape fecal em dois. Média de hábito intestinal: cinco vezes ao dia. CONCLUSÃO: Anastomose íleo-anal com bolsa ileal é uma cirurgia com aceitável morbidade e bons resultados funcionais, quando bem indicada e realizada em centros de referência. (AU)

Poliposis adenomatosa familiar: presentación de un caso y revisión de la literatura / Familial adenomatous polyposis: case report and literature review

Colorectal cancer (CRC) is a genetic and epigenetic disease. Approximately one third of the CRC has an hereditary component. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition that has its origins in the line of APC gene mutation, which occurs with a frequency of approximately 1:10,000 live births. We report a case of a patient of 25 years with FAP. This review provides current knowledge on the broad clinical spectrum of this disease, also referring to the optimal method of diagnosis, differential diagnosis and management.

El cáncer colorrectal (CCR) es una enfermedad genética y epigenética. Aproximadamente un tercio del CCR tiene un componente hereditario. La poliposis adenomatosa familiar (PAF) es una condición hereditaria autosómica dominante que tiene su origen en la línea de mutación del gen APC, el cual ocurre con una frecuencia aproximada de 1:10.000 nacidos vivos. Se reporta el caso de una paciente de 25 años con PAF. La presente revisión proporciona los conocimientos actuales sobre el amplio espectro clínico de esta enfermedad, refiriéndose también al método óptimo de diagnóstico, diagnóstico diferencial y su manejo.

Resultados funcionales del reservorio ileal / Functional results of ileal pouch

Background: Proctocolectomy with ileal pouch and posterior pouch anal anastomosis is the treatment of choice of severe ulcerative colitis and polyposis. Aim: To evaluate the functional results of ileal pouch anal anastomosis. Material and Methods: Retrospective assessment of all patients subjected to an ileal pouch anal anastomosis. Pouch function was evaluated using Oresland score that goes from 0 or perfect to 15 or bad. Results: During a 10 years period, 35 patients were operated. Ten patients aged 19 to 67 years were treated for an ulcerative colitis and nine, aged 18 to 54 years for a familial adenomatous polyposis. Global complication rate of the procedure was 20 percent. Late complication rate was 17 percent. Specific complication rate of the rectal- ileal pouch anastomosis was 6 percent. Specific late complications of the technique were only observed in six of 20 patients with ulcerative colitis. Pouch failure was observed in two patients (6 percent). Global Oresland score was 3.2. Seventeen of 22 patients with ulcerative colitis and seven of eight patients with polyposis had a satisfactory or acceptable score. Patients had a mean of 4.4 bowel movements per day (range 1 to 15) without differences according to the underlying disease. Conclusions: Eighty percent of patients subjected to an ileal pouch anal anastomosis reported an Oresland score of less than seven, that is satisfactory in terms of quality of life.

Introducción: La proctocolectomía con reservorio ileal y anastomosis reservorio-anal (RIARA) es el tratamiento quirúrgico de elección en la colitis ulcerosa grave y las poliposis. Objetivo: Evaluar resultados funcionales de la RIARA. Pacientes y Método: Evaluación retrospectiva de todos los pacientes intervenidos por una RIARA en forma consecutiva. Los resultados funcionales se evaluaron mediante entrevista según el escore de Õresland. Resultados: En un período de 10 años se intervinieron 35 pacientes, 26 por colitis ulcerosa (CU) (edad promedio 36,8; extremos 19-67) y 9 por poliposis adenomatosa familiar (PAF) (edad promedio 38,8; extremos 18-54). La morbilidad global de la RIARA alcanza al 20 por ciento y las complicaciones tardías se elevan al 17 por ciento. La morbilidad específica de la RIARA fue 5,6 por ciento. Las complicaciones tardías específicas de la técnica se presentaron exclusivamente en el grupo CU (6/30=20 por ciento) y la falla del reservorio alcanza al 5,7 por ciento (2 casos). El puntaje global de Õresland fue 3,2, sin diferencias entre ambos grupos. Hubo 17 de 22 (77 por ciento) pacientes con un puntaje satisfactorio o aceptable en el grupo CU y 7 de 8 (88 por ciento) en el grupo PAF. El promedio de evacuaciones en 24 horas fue 4,4 (extremos 1-15) en la serie global, sin diferencias entre ambos grupos. Conclusión: El 80 por ciento de los pacientes sometidos a una RIARA tienen un escore menor de 7 en la escala de Õresland, lo que equivale a una calidad de vida similar a la población general. Aunque los resultados funcionales de la RIARA no son perfectos, la calidad de vida y la satisfacción del paciente son satisfactorias.

Consideraciones sobre un caso singular de mutilación digestiva / Considerations an a singular case of digestive mutilation

El contenido de este trabajo se ajusta a la presentación de un caso notable que expone dos particularidades primordiales: 1) paciente sometida sucesivamente a: colectomía total, colecistectomía, gastrectomía total y ulteriormente a resección de los dos tercios superiores del recto; y 2) que haya sido factible practicar una evaluación clínica y paraclínica a más de tres décadas de la primera intervención quirúrgica, posibilitando de este modo estimar y debatir distintos ángulos de enfoque del caso en cuestión.

The remarcable case presented on this paper has two special characteristics: 1) the patient received, sequentially, a total colectomy, a cholecystectomy, a total gastrectomy and a resection of the two upper thirds of the rectum; and 2) the fact that it was feasible to make a clinical and paraclinical assesment more than three decades after the first surgery, making it possible to consider and to debate the different approaches towards this particular case.

Exenteración pélvica y colectomia total, manejo quirúrgico de un paciente complejo / Pelvic exenteration and total colectomy surgical management of complex patient

El presente trabajo resume en función de un caso clínico, el manejo de un paciente con poliposis adenomatosa familiar y portador de un cáncer de recto con fistula colovesical que presenta múltiples co-morbilidades, las cuales se agregan al manejo de la morbilidad oncológica; haciendo de interés su presentación. Se revisa la literatura en el manejo periperatorio, fístula colovesical y el tratamiento quirúrgico de la poliposis adenomatosa familiar.

Paper summarizes on the basis of a clinical case, management of a patient with familial adenomatous polyposis and rectal cancer who carries a colovesical. He has multiple co-morbidities, which are added to the management of cancer morbidity, making interest presentation. We review the literature on the management, colovesical fistula and surgical treatment of familial adenomatous polyposis.

Surgical treatment of familial adenomatous polyposis: ileoretal anastomosis or restorative proctolectomy? / Tratamento cirúrgico da polipose adenomatosa familiar: anastomose íleo-retal ou bolsa ileal?

Context: Controversy regarding the best operative choice for familial adenomatous polyposis lays between the morbidity of restorative proctocolectomy and the supposed mortality due to rectal cancer after ileorectal anastomosis. OBJECTIVES: To evaluate operative complications and oncological outcome after ileorectal anastomosis and restorative proctocolectomy. Methods: Charts from patients treated between 1977 and 2006 were retrospectively analyzed. Clinical and endoscopic data, results of treatment, pathological reports and information regarding early and late outcome were recorded. Results: Eighty-eight patients - 41 men (46.6 percent) and 47 women (53.4 percent) - were assisted. At diagnosis, 53 patients (60.2 percent) already had associated colorectal cancer. Operative complications occurred in 25 patients (29.0 percent), being 17 (19.7 percent) early and 8 (9.3 percent) late complications. There were more complications after restorative proctocolectomy (48.1 percent) compared to proctocolectomy with ileostomy (26.6 percent) and ileorectal anastomosis (19.0 percent) (P = 0,03). There was no operative mortality. During the follow-up of 36 ileorectal anastomosis, cancer developed in the rectal cuff in six patients (16,6 percent). Cumulative cancer risk after ileorectal anastomosis was 17.2 percent at 5 years, 24.1 percent at 10 years and 43.1 percent at 15 years of follow-up. Age-dependent cumulative risk started at 30 years (4.3 percent), went to 9.6 percent at 40 years, 20.9 percent at 40 years and 52 percent at 60 years. Among the 26 patients followed after restorative proctocolectomy, it was found cancer in the ileal pouch in 1 (3.8 percent). Conclusions: 1. Operative complications occurred in about one third of the patients, being more frequently after the confection of ileal reservoir; 2. greater age and previous colonic carcinoma were associated with the development of rectal cancer after ileorectal anastomosis; 3. patients treated...

Contexto: As controvérsias quanto a melhor forma de tratamento da polipose adenomatosa familiar confrontam a morbidade da proctocolectomia restauradora contra a suposta mortalidade decorrente de câncer retal após íleo-reto anastomose. OBJETIVOS: Avaliar as complicações operatórias e a evolução oncológica dos pacientes submetidos a íleo-reto anastomose ou proctocolectomia restauradora. Métodos: Analisaram-se os dados dos doentes tratados entre 1977 e 2006, procedendo ao levantamento de dados clínicos gerais, endoscópicos, resultados do tratamento cirúrgico, dados anatomopatológicos e informações sobre a evolução precoce e tardia dos pacientes. Resultados: Foram tratados 88 pacientes, sendo 41 homens (46,6 por cento) e 47 mulheres (53,4 por cento). Por ocasião do diagnóstico, 53 pacientes (60,2 por cento) já tinham câncer colorretal associado à polipose. Registraram-se complicações operatórias em 25 doentes (29,0 por cento) dentre os 86 operados, sendo 17 (19,7 por cento) precoces e 8 (9,3 por cento) tardias. Houve mais complicações após proctocolectomia restauradora (48,1 por cento) em comparação às proctocolectomias com ileostomia (26,6 por cento) e íleo-reto anastomose (19,0 por cento) (P = 0,03). Não houve mortalidade operatória. O risco cumulativo de câncer retal após íleo-reto anastomose foi de 17,2 por cento após 5 anos, 24,1 por cento após 10 anos e 43,1 por cento após 15 anos de seguimento pós-operatório. Já o risco cumulativo idade-dependente começou a existir a partir de 30 anos (4,3 por cento), passando para 9,6 por cento aos 40 anos, 20,9 por cento aos 40 anos e 52 por cento aos 60 anos. Entre os pacientes submetidos a bolsa ileal com seguimento (26), apenas 1 doente (3,8 por cento) desenvolveu câncer na bolsa ileal. Conclusões: 1. Ocorreram complicações operatórias em cerca de 1/3 dos pacientes, sendo mais frequentes após a confecção de bolsa ileal; 2. idade maior, tempo de seguimento e câncer colônico prévio se associaram...

Complicações imediatas e tardias após cirurgia de reservatório ileal na polipose adenomatosa familiar / Short-term and long-term postoperative complications after ileal pouch-anal anastomosis in familial adenomatous polyposis

RACIONAL: A retocolectomia total com confecção de reservatório ileal é cirurgia ideal para o tratamento do cólon e reto dos doentes com polipose adenomatosa familiar, no entanto pode estar associada a complicações no pós-operatório imediato e tardio. OBJETIVO: Estudar as complicações pós-operatórias da cirurgia do reservatório ileal na polipose adenomatosa familiar. MÉTODOS: Estudo retrospectivo de 69 doentes com polipose adenomatosa familiar submetidos a cirurgia de reservatório ileal no período de 1984 a 2006, pelo Grupo de Coloproctologia da Faculdade de Ciências Médicas da Universidade Estadual de Campinas, SP. O seguimento médio pós-operatório foi de 82 (2-280) meses. Dados de interesse: ocorrência de complicações no pós-operatório. RESULTADOS: A morbidade e mortalidade foram de 63,8 por cento e 2,9 por cento, respectivamente. As complicações mais freqüentes foram obstrução intestinal (17,4 por cento), estenose da anastomose (15,9 por cento) e sepse pélvica (10,1 por cento). Outras complicações foram isquemia aguda do reservatório ileal (4,3 por cento), ileíte do reservatório (" pouchitis" ) (2,9 por cento) e fístulas relacionadas ao reservatório (2,9 por cento). CONCLUSÕES: A morbimortalidade foi semelhante à da literatura e aceitável para uma cirurgia complexa como é a do reservatório ileal, realizada em dois tempos operatórios. A obstrução intestinal foi a complicação mais freqüente. Entretanto, isquemia do reservatório, " pouchitis" e sepse pélvica constituíram importantes complicações relacionadas à perda do reservatório ileal.

BACKGROUND: Restorative proctocolectomy is the procedure of choice to treat familial adenomatous polyposis, however it can be associated to short-term and long-term postoperative complications. AIM: To evaluate the occurrence of complications related to the surgical treatment of familial adenomatous polyposis with ileal pouch technique. METHODS: Retrospective study of 69 patients with familial adenomatous polyposis after rectocolectomy with ileal reservoir between 1984 and 2006, operated on Coloproctology Group, Medical Sciences Faculty, State University of Campinas, Campinas, SP, Brazil. The median follow-up period was 82 (2-280) months. Data obtained were surgical techniques and postoperative complications. RESULTS: The morbidity and mortality were 63.8 percent and 2.9 percent, respectively. The most frequent complications were small-bowel obstruction (17.4 percent), anastomotic stricture (15.9 percent) and pelvic sepsis (10.1 percent). Acute ischemia of the ileal pouch (4.3 percent), pouchitis (2.9 percent) and ileal pouch-related fistula (2.9 percent) had poorer frequency than others. CONCLUSIONS: The morbid-mortality was similar to the literature’s data and it is acceptable for a complex surgery in two terms like the ileal reservoir-anal anastomosis. The small-bowel obstruction was the most frequent complication. However, ischemia of the reservoir, pouchitis and pelvic sepsis were important complications and was related to the failure of the ileal reservoir.

Poliposis adenomatosa familiar: presentación de dos casos en gemelos masculinos idénticos / Familial adenomatous polyposis: case report of male twins

BACKGROUND: One hundred percent of the cases of familial adenomatous polyposis (FAP) will develop carcinoma; therefore, the necessity of diagnosis at an early age with immediate therapy is essential. In the presence of identical twins, it is mandatory for both to undergo comprehensive colonic examination as early as possible. The study took place at a third-level general hospital with the objective of explaining in detail the importance of early diagnosis of FAP. CLINICAL CASES: We report on FAP in identical male twins who were operated on at different times with different outcomes and prognosis. The first twin was treated 20 years previously at an early age and underwent subtotal colectomy with ileoproctostomy. This patient is currently asymptomatic with no evidence of malignancy. The second twin was operated on at the age of 33 years and was already a carrier of a well differentiated rectal adenocarcinoma. CONCLUSIONS: Opportune therapy carried out on the first twin has resulted in a disease-free status, in contrast with the delay in treatment of the second twin who developed carcinoma.

Adenocarcinoma primario de ileostomía en pacientes con poliposis adenomatosa familiar: [revisión] / Ileostomy primary adenocarcinoma in patients with familial adenomatous polyposis: [review]

El adenocarcinoma primario desarrollado sobre una ileostomía en pacientes con Poliposis adenomatosa familíar (PAF) coloproctectomizados es altamente infrecuente. Su aparición ha sido descripta en pacientes con ileostomía definitiva por PAF, rectocolitis ulcerosa y enfermedad de Crohn, aumentando su incidencia cuando la ostomía lleva más de 20 años. Hasta la fecha se han publicado 52 casos de carcinomas sobre la ostomía, 12 de ellos en PAF, sin el presente reporte. Se informan en el siguiente trabajo dos casos de adenocarcinoma primario de ileon, desarrollados sobre una ileostomía, pertenecientes al Registro de Poliposis del Hospital de Gastroenterología Dr. Carlos Bonorino Udaondo. Se efectúa una revisión bibliográfica, se informa sobre el seguimiento y la resolución de esta entidad poco frecuente.

Primary adenocarcinoma arising from the ileostomy site in patients with Familial Adenomatous Polyposis (FAP) is unfrequent. It has been described in patients with definitive ileostomy due to FAP, ulcerative colitis and Crohn's Disease. Its incidence increases with the time of follow-up (>20 years). Only 52 cases of this type and location of adenocarcinoma have been reported, 12 of them in patients with FAP. This paper reports 2 cases of primary ileal adenocarcinoma arising from the ileostomy site. Patients belong to the Polyposis Database of the Hospital de Gastroenterologia Dr. Carlos Bonorino Udaondo. Assessment, treatment and follow-up of these two patients is described, as well as a review of the literature of this unfrequent entity.

Proctocolectomía restauradora con reservorio íleoanal laparoscópica sin ileostomía de protección / Restorative proctocolectomy with ileal pouch anal anastomosis without loop ileostomy

El objetivo de este trabajo es presentar el resultado de la primera proctocolectomía laparoscópica con reservorio íleo-anal, sin ileostomía de protección, practicada en el Hospital Clínico de la Pontificia Universidad Católica de Chile. La operación se realizó en un paciente de 34 años con poliposis adenomatosa familiar. El paciente tuvo un cuadro clínico de un mes y medio de evolución, caracterizado por dolor abdominal y cambio del hábito intestinal. El estudio colonoscópico reveló la presencia de múltiples pólipos en colon (>100 pólipos), así como también, compromiso rectal. Dado los hallazgos intraoperatorios se decidió efectuar una proctocolectomía laparoscópica más un reservorio ileal en J, sin ileostomía de protección; la pieza operatoria se extrajo mediante una incisión de Pfannenstiel. La cirugía se realizó sin dificultades en un tiempo de 340 minutos. El paciente se realimentó con líquidos al 5º día y se dio de alta al 9º día postoperatorio, sin complicaciones. No se registraron complicaciones en el seguimiento temprano a 30 días del alta hospitalaria. Luego de 6 meses desde su operación, el paciente presenta 4-6 deposiciones diarias, sin urgencia y utiliza loperamida® en forma esporádica.

The aim of this paper is to present the result of the first laparoscopic proctocolectomy with Neo anal pouch, without loop ileostomy, made in the Clinical Hospital of the Pontificia Universidad Católica de Chile. The operation was made in a patient of 34 years old, with adenomatous familial polyposis. The patient had a clinical presentation of a month and a half with abdominal pain and change of abdominal bowel evacuation. The colonoscopic study reveal the presence of multiples polyps in the colon (>100 polyps), and rectal compromise. In order to the intraoperative findings we decided made a laparoscopic proctocolectomy with an ileal J pouch, without protection ileostomy, and surgical specimen was extracted through Pfannensteil's incision. The surgery was made without difficulties, with an operative time of 340 minutes. The patient was feed with liquid diet in the 5° postoperative day, and was discharge the 9° postoperative day, without complications. There were not complications in the early follow up (<30 days since the operation). After 6 months, the patient presents 4-6 bowel movements per day, without urgency and use loperamida sporadically.