Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

PURPOSE: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. Three causative genes are known: ENG (HHT-1), ACVRL1 (HHT-2), and SMAD4 (mutated in HHT in association with juvenile polyposis). Gastrointestinal bleeding is the most common symptom after epistaxis. The stomach and the duodenum are the main gastrointestinal sites of telangiectases. Our aim was to explore gastrointestinal tract of consecutive HHT patients to assess distribution, number, size, and type of telangiectases in relation to genotype. METHODS: HHT patients underwent gastroduodenoscopy, video capsule endoscopy, and colonoscopy. Molecular analysis of ENG and ACVRL1 was performed to identify the disease-causing mutation. RESULTS: Twenty-two patients (13 men; mean age: 59 ± 9 years) were analyzed: 7 with HHT-1, 13 with HHT-2, and 2 undefined. Gastrointestinal telangiectases were identified as follows: at gastroduodenoscopy in 86% of HHT-1 patients and in 77% of HHT-2 patients, at video capsule endoscopy in all HHT-1 patients and in 84% of HHT-2 patients, and at colonoscopy in 1 patient for each group. HHT-1 showed multiple telangiectases with a higher prevalence, more relevant in the duodenum. CONCLUSION: Our data demonstrate extensive involvement of the gastrointestinal tract with a more severe association in HHT-1. Gastroduodenoscopy provides significant information on gastrointestinal involvement, and video capsule endoscopy may be added in selected patients. Colonic polyps/adenomas were identified as occasional findings.

Increased CD8+ intraepithelial lymphocyte infiltration and reduced surface area to volume ratio in the duodenum of patients with ulcerative colitis.

OBJECTIVE: Recent evidence suggests the involvement of the upper gastrointestinal tract in ulcerative colitis (UC). By conducting a prospective controlled study, we explored the immunological abnormalities in the duodenal mucosa of UC patients. METHODS: Duodenal and colonic biopsies were collected from 24 corticosteroid-free UC patients and 21 controls. Colonization by Helicobacter pylori and positivity for anti-endomysial antibodies was an exclusion criteria. The severity of duodenal and colonic inflammation was determined by endoscopic and histologic scores. Morphometry was performed to measure the surface area to volume ratio (SV). Duodenal CD3(+) and CD8(+) intraepithelial lymphocytes (IELs) and lamina propria mononuclear cells (LPMCs) were detected by immunohistochemistry. RESULTS: Fifteen UC patients and 14 controls were Helicobacter pylori and anti-endomysial antibody negative and were thus included in the study. Microscopic duodenitis was reported in 4 of the 15 UC patients (26.6%), and in none of the controls. A significantly higher number of CD3(+) and CD8(+) IELs and LPMCs was found in UC patients than in controls. A significant positive correlation between the percentage of both CD3(+) and CD8(+) IELs and disease activity was found in UC patients. SV was significantly reduced in UC patients compared to controls, and inversely correlated with the percentage of CD8(+) IELs. CONCLUSIONS: The duodenum of UC patients is infiltrated by a higher number of CD8(+) IELs which correlates with the degree of villous flattening and disease activity, but not with extent of the colonic lesions. Further studies are needed to clarify whether the duodenum is a target organ in UC.

Patient satisfaction after endoscopic retrograde cholangiopancreatography for biliary stones: a prospective multicenter study in Lombardy.

AIMS: To measure patients' satisfaction after endoscopic retrograde cholangiopancreatography (ERCP) for biliary stones in a large number of unselected endoscopy units. METHODS: A prospective study using a questionnaire (Group Health Association of America-9 [GHAA-9], modified) was administered 24 h and 30 days after the procedure. Patients undergoing endoscopy for biliary stones for the first time were enrolled in a large number of endoscopy units, regardless of their size and workload. RESULTS: In all, 700 patients were enrolled in 15 units. A high proportion of patients expressed satisfaction (80%). Satisfaction was less extensive for pain control and the quality of information provided before the procedure. There were no differences in the replies to questionnaires at 24 h and 30 days. CONCLUSION: It is feasible to record patients' satisfaction and in this series most patients were very satisfied. Criticisms concerned pain control and explanations provided before the procedure.

Type or extension of intestinal metaplasia and immature/atypical "indefinite-for-dysplasia" lesions as predictors of gastric neoplasia.

At present, no information exists on the neoplastic potential of the immature hyperproliferative and atypical lesions of the gastric mucosa, which have been recently labeled "indefinite for dysplasia." In addition, uncertainties still exist concerning the risk contribution of intestinal metaplasia (IM) type and extension, as well as Helicobacter pylori infection. In this study, 471 dyspeptic patients showing IM 10% or higher (median, 40; 25th-75th percentile, 20-60) in antral, angulus, or corpus endoscopic biopsies were submitted to repeated examinations (median, 3; 2-5) over 52 (26-85) months of follow-up, during which 44 neoplastic cases were recorded. IM extension, incomplete, sulfomucin-positive, or CAR5 antigen-positive IM; H pylori infection; and indefinite-for-dysplasia lesions (IDLs), as found at first examination, all showed significant neoplastic potential. However, only IDL, ongoing H pylori infection, and patient's age retained independent predictive power in a multivariate model. On the other hand, IM extension 20% or higher proved to be more sensitive as first screening parameter for identification of subjects with increased neoplastic risk. We suggest that patients with IM, when infected, should undergo H pylori eradication to reduce their cancer risk; only those bearing IDL or very extensive IM (which strongly correlates with IDL) should be followed up with endoscopies and biopsies.

Defining a proper setting for endoscopy in coeliac disease.

OBJECTIVE: As it has been demonstrated that a careful duodenal inspection during upper gastrointestinal endoscopy may be useful in predicting coeliac disease, we tried to define the usefulness of endoscopy in detecting unsuspected coeliac patients. DESIGN AND METHODS: We considered all the first diagnoses of coeliac disease from 1992 to 2001, i.e. 110 patients with a biopsy-proven diagnosis of coeliac disease. From 1992 to 1997, neither of the endoscopists paid careful attention to the endoscopic features of coeliac disease in the course of the examinations performed for indications other than coeliac disease. From 1998 to 2001, the same endoscopists looked very carefully at these endoscopic features, regardless of the indication for the procedure. RESULTS: Over the first period, 22/16,081 patients endoscoped for the first time had a histological diagnosis of coeliac disease, with a prevalence of 1/731. In all 22 patients the indication for the examination was the suspicion of coeliac disease. The endoscopic appearance of the duodenum was indicative in 16/22 (72.7%) patients. Over the second period, the diagnosis of coeliac disease was made in 88/10,410 patients endoscoped for the first time. The prevalence of the disease was 1/118 examinations performed. The endoscopic appearance of the duodenum was indicative in 70/88 (79.5%) patients. In 13/88 patients, the diagnosis of coeliac disease was presumed because of the macroscopic appearance of duodenum, lacking a past history suggestive of coeliac disease. CONCLUSIONS: Despite a still open controversy on the accuracy of endoscopic markers in the diagnosis of coeliac disease, we have found that in subjects not suspected for coeliac disease and undergoing an upper gastrointestinal endoscopy for other reasons, attention to the endoscopic pattern could facilitate the identification of a relevant number of cases.