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.

Can we improve the detection rate and interobserver agreement in capsule endoscopy?

BACKGROUND: Data about strategies for improving the diagnostic ability of capsule endoscopy readers are lacking. AIM: (1) To evaluate the detection rate and the interobserver agreement among readers with different experience; (2) to verify the impact of a specific training (hands-on training plus expert tutorial) on these parameters. METHODS: 17 readers reviewed 12 videos twice; between the two readings they underwent the training. The identified small bowel findings were described by a simplified version of Structured Terminology and classifies as clinically significant/non-significant. Findings identified by the readers were compared with those identified by three experts (Reference Standard). RESULTS: The Reference Standard identified 26 clinically significant findings. The mean detection rate of overall readers for significant findings was low (about 50%) and did not change after the training (46.2% and 46.4%, respectively). There was no difference in the detection rate among readers with different experience. The interobserver agreement with the Reference Standard in describing significant findings was moderate (k = 0.44; CI95%: 0.39-0.50) and did not change after the training (k = 0.44; CI95%: 0.38-0.49) or stratifying readers according to their experience. CONCLUSIONS: Both the interobserver agreement and the detection rate of significant findings are low, regardless of the readers' experience. Our training did not significantly increase the performance of readers with different experience.

Small bowel capsule endoscopy in clinical practice: a multicenter 7-year survey.

BACKGROUND AND AIM: Data about small bowel capsule endoscopy (SBCE) come from studies involving small and highly selected populations. The study aim was to describe extent of use, indications, results, complications, and practical issues of SBCE in clinical practice in a Northern Italian Region (Lombardia). MATERIALS AND METHODS: Twenty-three out of 29 invited centers fulfilled a specific questionnaire. RESULTS: Between 2001 and 2008, 2921 procedures were performed and both the number of centers performing SBCE (from 5 to 29) and the number of SBCE (from 7.2 to 69.2 per month) increased steadily. The main indications for SBCE were: obscure gastrointestinal bleeding (OGIB) (43.4%), unexplained anemia (23.9%), suspected Crohn's disease (7.8%) and abdominal pain (5.3%). Overall, SBCE was positive in 50% of cases, negative in 36% and undefined in 14%. The highest diagnostic yields were observed in patients with OGIB (62.5%), polypoid syndromes (74.1%), known (54.8%) or suspected (47.3%) inflammatory bowel disease, while the yields were low in patients examined for chronic diarrhea (27.4%) and abdominal pain (14.9%), 61 patients (2.1%) experienced capsule retention. Thirty-two of them eventually excreted the capsule naturally while endoscopic or surgical retrieval was necessary in 29 (1%) (in two because of obstruction). CONCLUSION: Over a period of 7 years the use of SBCE in Lombardia increased steadily confirming, in clinical practice, a high diagnostic yield and an acceptable safety profile.