Enteroscopic evaluation of the gastrointestinal tract in symptomatic patients with hereditary hemorrhagic telangiectasia

Objectives: Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which 25% to 30% of patients will develop gastrointestinal bleeding from telangiectases. The extent of telangiectases has not been previously evaluated. This cross-sectional study compared the presence, number, and size of telangiectases in the stomach and duodenum to those in the jejunum using enteroscopy. Methods: At the Yale University Vascular Malformation Center, 30 consecutive, symptomatic adult patients with hereditary hemorrhagic telangiectasia were evaluated using a 220-cm-length enteroscope. The number and size of the telangiectases were documented in the esophagus, proximal and distal stomach, four parts of the duodenum, and every 20 cm in the jejunum. The indication for the procedure was recorded as anemia, gastrointestinal bleeding, or anemia out of proportion to epistaxis. Results: The results of 27 patients were analyzed. A total of 89% of patients had telangiectases in the first 60 cm of the jejunum. In individual patients, there was a strong correlation between the number of telangiectases in the stomach/duodenum when compared with the jejunum. In group analysis, the median number of telangiectases in the stomach and duodenum was significantly higher than in the jejunum (13 vs. 3; Wilcoxon signed rank test, P = 0.001). The presence of large ( greater than or equal to 5 mm) telangiectases in the stomach/duodenum did not necessarily indicate that there would be large telangiectases in the jejunum. Conclusions: The presence and number of stomach and duodenal telangiectases correlated with the presence and number of jejunal ones. However, the occurrence of large proximal telangiectases was not associated with large distal ones.