Clinical score predicting a successful endoscopic approach of esophageal anastomotic leaks: external validation.

BACKGROUND: Recently, a clinical prediction rule has been proposed to predict the chance of successful endoscopic stenting in benign esophageal anastomotic leakage, perforation and fistula. We aimed to validate this score in a cohort of patients with anastomotic leaks managed with self-expanding metal esophageal stents, by assessing technical and clinical success rates and comparing the agreement between the predicted and the actual clinical success. METHODS: A multicenter retrospective cohort study including patients submitted to endoscopic stenting due to anastomotic leak was conducted. Variables of the score (leak size, location and C-reactive protein) were collected and the chance of success (≤50, 50-70 and ≥70%) and its accuracy was assessed. RESULTS: Fifty-three patients, submitted to esophageal stenting after cancer (n = 47) and bariatric surgery were included. Clinical success was achieved in 62% of patients. The area under the ROC curve to differentiate between successful and failed therapies showed a good discriminative power of the score (AUC 0.705; P < 0.01). For a predicted chance of success >50%, the positive predictive value was 72.5%; for a chance of success ≤50%, the negative predictive value was 69.2%. CONCLUSIONS: The application of this predictive model in patients with anastomotic leaks proved to be valid in a different cohort from that in which it was derived. Its usefulness in clinical practice may be anticipated, favoring stenting in patients with a chance of success >50%. However, we must be cautious in patients with a lower probability of success and a case-by-case decision should be made.

Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case.

MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.

Endoscopic Scores for Evaluation of Crohn's Disease Activity at Small Bowel Capsule Endoscopy: General Principles and Current Applications.

The small bowel is affected in the vast majority of patients with Crohn's Disease (CD). Small bowel capsule endoscopy (SBCE) has a very high sensitivity for the detection of CD-related pathology, including early mucosal lesions and/or those located in the proximal segments of the small bowel, which is a major advantage when compared with other small bowel imaging modalities. The recent guidelines of European Society of Gastrointestinal Endoscopy (ESGE) and European Crohn's and Colitis Organisation (ECCO) advocate the use of validated endoscopic scoring indices for the classification of inflammatory activity in patients with CD undergoing SBCE, such as the Lewis Score or the Capsule Endoscopy Crohn's Disease Activity Index (CECDAI). These scores aim to standardize the description of lesions and capsule endoscopy reports, contributing to increase inter-observer agreement and enabling a stratification of the severity of the disease. On behalf of the Grupo de Estudos Português do Intestino Delgado (GEPID) - Portuguese Small Bowel Study Group, we aimed to summarize the general principles and clinical applications of current endoscopic scoring systems for SBCE in the setting of CD, covering the topic of suspected CD as well as the evaluation of disease extent (with potential prognostic and therapeutic impact), evaluation of mucosal healing in response to treatment and evaluation of post-surgical recurrence in patients with previously established diagnosis of CD.

O intestino delgado encontra-se envolvido pela doença na maioria dos pacientes com Doença de Crohn (DC). A enteroscopia por cápsula (EC) apresenta uma elevada sensibilidade na detecção de lesões relacionadas com a DC, incluindo as lesões superficiais mais precoces e/ou localizadas no segmentos proximais do intestino delgado, o que representa uma clara mais-valia comparativamente com os demais exames imagiológicos do intestino delgado. As recentes recomendações da ESGE (European Society of Gastrointestinal Endoscopy) e da ECCO (European Crohn's and Colitis Organisation) recomendam a utilização dos scores endoscópicos validados para a classificação da actividade inflamatória em doentes com DC submetidos a EC, nomeadamente o Score de Lewis ou o CECDAI (Capsule Endoscopy Crohn's Disease Activity Index). Estes scores permitem uniformizar a descrição das lesões e os relatórios em EC, contribuindo para uma melhoria da concordância entre observadores e possibilitando a estratificação da gravidade da doença. Em nome do GEPID (Grupo de Estudos Português do Intestino Delgado - Portuguese Small Bowel Study Group), os autores pretendem sumariar neste documento os princípios gerais e as aplicações clínicas actuais dos scores endoscópicos em EC no contexto da DC, incluindo quer a suspeita de DC, quer a avaliação da extensão da doença (com potencial impacto prognóstico e na decisão terapêutica), avaliação da cicatrização da mucosa em resposta ao tratamento e avaliação da recorrência pós-cirúrgica em doentes com um diagnóstico prévio de DC.

Familial adenomatous polyposis and Crohn's disease in one patient: dilemmas and concerns.

Familial adenomatous polyposis (FAP) and Crohn's disease (CD) are two entities with no known etiologic or physiopathogenic relation. The rarity of the former makes the coincidence of both diagnoses in one patient very unlikely. Nevertheless, management in such cases can be puzzling as surgical options must be considered, and immunosuppression/immunomodulation is set in a territory of accelerated carcinogenesis. We report the case of a 29-year-old male with a diagnosis of FAP since adolescence, already submitted to prophylactic proctocolectomy, presenting with anemia and bloody diarrhea, revealing small bowel CD. This case allows for a rich discussion of the clinical dilemmas presenting when FAP and CD are diagnosed in the same patient and for a deep analysis of the concerns inherent to the available therapeutic options.

[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation]. / Polipose associada ao MYH: fenótipo grave na homozigotia para a mutação 1103delC.

MYH-associated polyposis (MAP) is an autosomal recessive disease associated with multiple colonic adenomas and colorectal cancer. Y165C and G382D MYH missense mutations are involved in more than 80% of cases in Caucasians and the large series published do not include patients homozygous for other mutations. We present the report of two siblings homozygous for the nonsense frameshift mutation 1103delC. The proband aged 28 presented with four colonic adenocarcinomas and 20-30 synchronous adenomas. Her sister aged 24 had 20 colonic adenomas and a severe Spigelman's III duodenal adenomatosis. Their parents, aged 60 and 51, heterozygous for the 1103delC MYH mutation, presented 5 and 2 low risk colorectal adenomas, respectively.