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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.
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.
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.