Atypical Celiac Disease: Could You Be Missing This Common Problem?
For every recognized case of celiac disease, 8 more remain undiagnosed. The reason for this disparity is contingent on the varying presentations of the disease.
ABSTRACT: For every recognized case of celiac disease, 8 more remain undiagnosed. The reason for this disparity is contingent on the varying presentations of the disease. What was once considered solely a GI disorder, uniformly presenting with diarrhea and malabsorption, has evolved into a multisystem autoimmune disorder with myriad symptoms and signs. In addition, celiac disease is no longer a disorder limited to childhood and adolescence; it has even been diagnosed for the first time in elderly patients. Atypical celiac disease can be found in patients who present primarily with hypothyroidism, liver enzyme elevations, Addison disease, type 1 diabetes mellitus, and other disorders with major pathology outside the GI tract. Studies have demonstrated that an active casefinding strategy in primary care practice can increase the diagnostic yield for celiac disease.
Key words: celiac disease, tissue transglutaminase, gluten
If you were to ask other primary care practitioners which subspecialty niche celiac disease should occupy, most would probably respond, "Gastroenterology, of course." Until recently, we would have agreed. However, celiac disease or, better yet, celiac syndrome needs to be "reframed" for contemporary clinicians.
For example, "atypical" celiac disease-which presents with few or even no GI symptoms or signs-is largely responsible for the increased prevalence of celiac disease today.1 Extraintestinal manifestations of celiac disease are rapidly becoming the rule rather than the exception. One example is thyroid disease, which occurs 4.4 times more frequently in patients with celiac disease than it does in control populations.2 In some of these persons, the thyroid disorder may be diagnosed and treated appropriately, but celiac disease may be either overlooked or only diagnosed later.
Celiac disease can be associated with a variety of autoimmune diseases including type 1 diabetes mellitus, autoimmune liver disease, Graves disease, and Addison disease.3 Thus, celiac disease has become one of our generation's great "masqueraders," similar to the role syphilis played in William Osler's day.
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