Celiac disease can be defined as a small bowel disorder characterized by mucosal inflammation, villous atrophy, and crypt hyperplasia, which occur upon exposure to dietary gluten and which demonstrate improvement after withdrawal of gluten from the diet. However, the availability of serologic testing for celiac disease and the common use of upper endoscopy has complicated the definition, since these tests have identified patients who appear to have the disease but have variable degrees of histopathologic changes and/or symptoms. Thus, several categories of celiac disease have emerged. Whether these phenotypes are clinically useful remains to be determined [1-3].
The natural history of these various forms of celiac disease is incompletely understood. In particular, the long-term risk of complications in patients who are asymptomatic is unclear. Such patients may also be least likely to comply with a gluten-free diet. (See "Management of celiac disease in adults".)
This topic review will focus on the use of serum antibodies in the diagnosis and management of celiac disease. This topic is also discussed in guidelines issued by several organizations [4,5]. The recommendations in this topic are largely consistent with a consensus statement from the National Institutes of Health (NIH) and with the American College of Gastroenterology (ACG) guidelines [2,6].
WHO SHOULD BE TESTED
Testing for celiac disease should be considered in the following groups of patients [2,6]:
- Those with gastrointestinal symptoms including chronic or recurrent diarrhea, malabsorption, weight loss, and abdominal distension or bloating. This includes patients with symptoms suggestive for irritable bowel syndrome or severe lactose intolerance.
- Individuals without other explanations for signs and symptoms such as iron deficiency anemia, folate or vitamin B12 deficiency, persistent elevation in serum aminotransferases, short stature, delayed puberty, recurrent fetal loss, low birthweight infants, and reduced fertility persistent aphthous stomatitis, dental enamel hypoplasia, idiopathic peripheral neuropathy, nonhereditary cerebellar ataxia, or recurrent migraine headaches.
- Patients with type 1 diabetes mellitus, and first-degree relatives of individuals with celiac disease if they have signs, symptoms, or laboratory evidence of celiac disease. Testing for celiac disease may be considered in asymptomatic first-degree relatives of patients with confirmed diagnosis of celiac disease and in those with Down syndrome.