International Journal of Celiac Disease. 2014, 2(3), 76-85DOI:
Abstract: Celiac disease (CeD) is an immune-mediated enteropathy triggered by ingestion of gluten in genetically susceptible individuals. CeD is a global disease and estimated to affect approximately one percent of the global population. With advent of simple serological tests for the diagnosis, the number of individuals diagnosed with CeD is increasing exponentially. It was initially thought that gluten hypersensitivity in CeD is limited to small intestine only and all other features are secondary to malabsorption, but it is now recognized that the hypersensitivity to gluten is not limited to small intestine alone and may affect other organs such as skin, brain, and bones independent of intestinal involvement. CeD is now considered a multi-system disorder and their clinical presentation may be with gastrointestinal symptoms, called “classical CeD” or more often with non-gastrointestinal symptoms called “non-classical CeD”. These patients may present with short stature, anemia, liver dysfunction (asymptomatic increase in transaminases, chronic liver disease, autoimmune hepatitis), cutaneous manifestations (dermatitis herpetiformis, oral ulcers), reproductive diseases (infertility, recurrent abortions), neurological manifestations (ataxia, peripheral neuropathy), and metabolic disorders (osteopenia/osteoporosis). What determines these variable phenotypes remain unclear but likely is a result of genetic as well as environmental factors. Many of these patients with non-classical CeD are likely to report to specialists other than gastroenterologists such as hematologists, endocrinologists, rheumatologists or gynecologists. Unfortunately, the awareness about non-classical presentations of CeD amongst health care professionals remains low. There is an urgent need to increase awareness among health care professionals about varied manifestations of CeD in order to decrease the burden of undiagnosed CeD.