Small bowel biopsy remains the gold standard for diagnosis of celiac disease. Over the past decade the diagnostic criteria for celiac sprue have changed. Based on the 1990 revised criteria of the European Society of Paediatric Gastroenterology and Nutrition, the diagnosis of celiac sprue can be made with a diagnostic small bowel biopsy in a patient with highly suggestive clinical symptoms, followed by an objective clinical response to a gluten-free diet. Endoscopic biopsies from the distal duodenum are preferable because the presence of Brunner glands in the duodenal bulb and proximal second portion of the duodenum may affect histologic interpretation. The original criteria requiring a series of three biopsies, i.e., first to confirm the diagnosis, second for demonstration of response to a gluten-free diet and the third for deterioration after gluten challenge, are only required in those few patients in which there is still some diagnostic uncertainty.
Endoscopic features observed in patients with celiac disease include scalloped or fissured folds, absence of folds when the duodenum is inflated, and visible submucosal blood vessels; however, these findings are unreliable in diagnosing celiac disease as only roughly half of the patients will have the findings detected endoscopically. Other causes of atrophy are indistinguishable from celiac disease.
Characteristic histologic changes described are partial or total villous atrophy, elongation of crypts, a decreased villous:crypt ratio, and increased intraepithelial lymphocytes (>30 per 100 entero-cytes). Marsh and colleagues proposed a classification for the spectrum of histologic changes ranging from type 0 or preinfiltrative/normal, type1 or infil-trative lesion (increased intraepithelial lymphocytes), type 2 or hyperplastic lesion (presence of crypt hyperplasia), type 3 or destructive lesion (variable degree of villous atrophy), and type 4 or the hypoplastic lesion (total villous atrophy with crypt hypoplasia).
The role of radiological studies in the initial diagnosis of celiac sprue is limited. The findings of floc-culation and segmentation of barium representing excessive fluid secretion in the lumen of the small intestine, thickened mucosal folds, and dilation of the small intestine are nonspecific and insensitive for celiac disease. Reversal of the fold patterns between the jejunum and ileum may also be seen. Computerized tomography techniques may be useful in diagnosing the complications of celiac sprue such as development of lymphoma, malignancy, hyposplen-ism, or cavitating mesenteric lymphadenopathy. CT enterography techniques are currently under investigation and may become an accepted diagnostic test in the future.
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