Diagnosis

The prevalence of IBD in developed countries is about 0.1% and the disease places a major burden on public healthcare resources. While considerable evidence suggests that CD and UC are distinct conditions, their similar clinicopathological phenotypes can make diagnosis difficult, especially in the significant proportion of patients that present with 'indeterminate' disease. The diagnosis of CD or UC is based on a combination of examinations1:

• Endoscopic sigmoidoscopy: examining the lining of the lower third of the large intestine; colonoscopy, examining the lining of the entire colon and potentially the ileum.

• Endoscopic retrograde cholangiopancreatography: examining the bile ducts in the liver and the pancreatic duct.

• Endoscopic ultrasound: using ultrasound to diagnose perianal fistulas.

• Capsule endoscopy: the state-of-the-art technique with which patients swallow a small capsule with a camera inside to produce images of sections of the small intestine that are beyond the reach of conventional techniques.

• X-ray (including computed tomography (CT) scan and leukocyte scintigraphy), as well as a battery of blood and histology tests.

For patients with CD, the intestinal lining will take the characteristic 'cobblestone' appearance of aphthous and linear ulcers. The CD intestine may also be characterized by strictures and fistulas, in contrast to UC. However, the first-order diagnosis is to determine whether there is an underlying inflammatory process occurring, or whether symptoms are related to some other condition. Flexible sigmoidoscopy or colonoscopy may be reasonably well-tolerated methods of diagnosis in the adult population, but this is less acceptable for pediatric patients. Complete blood count tests often detect high white blood cell counts, which could indicate intestinal inflammation or infection and low blood counts (anemia) that might reveal intestinal bleeding. A hallmark of active UC is the presence of a polymorphonuclear cell infiltrate into epithelial crypts and the lamina propria, an effect that is accompanied by an exudation of inflammatory cells into the colonic lumen. Although elevation is less consistent in UC, elevation in plasma C-reactive protein may also be a sensitive measure of ongoing inflammation. Several fecal assays exist, in particular those for the neutrophil-derived proteins calprotectin and lactoferrin, as sensitive measures that can be used to contribute to diagnosis and assess disease activity. Certain serological markers are also used routinely to reach a disease diagnosis, e.g., the prevalence of perinuclear antineutrophil antibodies in serum from UC patients (in the range of 50-80%), or the presence of antti-Saccharomyces cerevisiae antibodies in patients with CD.

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