Celiac Disease Overview

Symptoms of Celiac Disease

Celiac disease causes debilitating symptoms and potentially serious medical complications. Small intestine damage often leads to nutrient malabsorption that can result in a range of further clinical manifestations (anemia, osteopenia, osteoporosis, failure to thrive in children). In addition, extra-intestinal symptoms and systemic manifestations are often present, such as dermatitis, infertility, or neurological and skeletal disorders.

The most serious complication of celiac disease is the development of a gastrointestinal T cell lymphoma after years of exposure to gluten. This malignant condition, which is no longer dependent of gluten or responsive to a gluten-free diet (GFD), is called refractory celiac disease Type II (RCD II), an in situ small bowel T-cell lymphoma.

Green PH, Cellier C. Celiac disease. N Engl J Med 2007; 357:1731-1743.

Malamut G, Cellier C. Refractory celiac disease: epidemiology and clinical manifestations. Dig Dis 2015; 33:221-226.

Lebwohl B, Granath F, Ekbom A, et al. Mucosal healing and risk for lymphoproliferative malignancy in celiac disease: a population-based cohort study. Ann Intern Med 2013; 159:169-75.

Causes of Celiac Disease

Celiac disease is a chronic hereditary systemic autoimmune and inflammatory disease triggered by gluten consumption. In celiac patients, the autoimmune process (the immune system mistakenly attacks and destroys healthy body tissue) starts in the mucosa of the small intestine (the lining of the gut wall), spreading to other organs in approximately one half of patients.

Gluten is a form of protein present in some grains, such as wheat, barley, rye and, to a lesser extent, oats. Gluten is modified by an enzyme called tissue transglutaminase (tTG) and then binds to the immune molecules HLA-DQ2 and HLA-DQ8, triggering an immune reaction against gluten and tTG. The immune reaction to tTG is what separates celiac disease from other diseases that involve gluten. For instance, immune reactivity against gluten but not against healthy body tissue is a different condition called “gluten sensitivity.” Another disease caused by gluten is “wheat allergy”, a food allergy that is also different from the autoimmune celiac disease.

Approximately 1% of the general population has celiac disease. Celiac disease is the most frequent chronic autoimmune gastrointestinal disease, and the prevalence is doubling every 20-30 years.

Green PH, Cellier C. Celiac disease. N Engl J Med 2007; 357:1731-1743.

Schuppan D, Junker Y, Barisani D. Celiac Disease: From pathogenesis to novel therapies. Gastroenterology 2009; 137:1912-1933.

Fasano A, Berti I, Gerarduzzi T, Not T, Colleti RB, Drago S, et al. Prevalence of celiac disease in at risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med 2003;63:286-292.

Riddle MS, Murray JA, Porter CK. The incidence and risk of celiac disease in a healthy US adult population. Am J Gastroenterol 2012; 107:1248-1255.

Diagnosis of Celiac Disease

In many patients, the initial diagnosis is suspected by the presence of gastrointestinal symptoms derived from intestinal mucosal damage or symptoms in other organs with no apparent cause. Blood tests can be done to determine the presence of positive specific blood antibodies (anti-transglutaminase or anti-deamidated gluten peptide antibodies), and a biopsy of the small intestine often reveals intestinal mucosal atrophy, which can confirm a diagnosis of celiac disease.

It should be noted that as many as 1 in 5 celiac patients do not have clearly distinguishable or detectable symptoms and the diagnosis may be difficult to establish in those cases. It is estimated that 83% of Americans who have celiac disease are undiagnosed or misdiagnosed with other conditions.

Green PH, Cellier C. Celiac disease. N Engl J Med 2007; 357:1731-1743.