Celiac disease is a chronic inflammatory disease of the small intestine, resulting from an inappropriate immune response to the dietary protein gluten. Gluten is a storage protein, found in wheat, barley and rye that is responsible for the elastic texture of dough. The prevalence of celiac disease in the United States is approximately 1-2 % of the population, with an increased prevalence noted in patients with related symptoms, a family history of celiac disease and in patients with diabetes.
The manifestations of celiac disease range from no symptoms to overt malabsorption (of essential nutrients) with involvement of multiple organ systems and an increased risk of some malignancies. Before 1981, over 90% of patients diagnosed with celiac disease presented to their physician with diarrhea and weight loss as their major symptoms. Currently, only 27% of patients present with these classic symptoms, while 21% of patients are asymptomatic and the majority (52%) of patients present with atypical symptoms such as constipation, anemia, osteoporosis, elevated liver function tests, neurologic disorders, reproductive disorders etc. These atypical presentations result from malabsorption of essential vitamins and minerals secondary to gluten-related injury to the small intestinal villi. The atypical presentation of celiac disease has led to a significant delay in the diagnosis of celiac disease (from onset of symptoms to establishing the diagnosis) to as much as 11 years in the1980s. As physicians have become more aware of the changing pattern of symptoms, the delay in diagnosis has reduced to less than 4 years; still much too long! This delay in diagnosis has been associated with an increased risk of osteoporosis, autoimmune disease, and some malignancies as well as a poorer quality of life.
The diagnosis of celiac disease is based on establishing at least 4 out of 5 criteria: clinical symptoms, laboratory testing (celiac serologies), endoscopic biopsy, genetic testing and a response to gluten free diet. Management of celiac disease involves strict adherence to a gluten free diet (under the supervision of a certified nutritionist), correction of mineral/vitamin deficiencies and close monitoring of the patient’s symptoms/labs/pathology that should ideally be done in the context of an established Celiac Center of Excellence. Several pharmaceutical companies are actively involved in the development of medicines that block the effects of gluten on the small intestinal mucosa, with the hope that someday patients with celiac disease can safely consume gluten-containing foods. One such trial is currently underway in our Celiac Center of Excellence under the auspices of the Connecticut Clinical Research Institute of Connecticut GI.
The Celiac Center of Excellence at Hartford Healthcare/Connecticut GI is composed of 20 GI providers from Connecticut GI servicing over 26 geographic areas, as well a pediatric gastroenterologist from CCMC, 4 nutritionists, and 3 GI fellowship-trained pathologists. It has been recognized as a Celiac Disease Recognized Unit by the prestigious Society for the Study of Celiac Disease (SSCD); one of only a handful of similar programs across the country, including Massachusetts General Hospital, Columbia, Vanderbilt, University of Chicago etc. It is our hope is that we can continue to educate both physicians and patients regarding the changing presentation of celiac disease, so as to shorten the delay in diagnosis, while at the same time offering the most comprehensive care available to the patient with celiac disease.