Celiac Disease
Unmasking celiac disease, empowering health.
Celiac disease is a chronic autoimmune disorder triggered by the ingestion of gluten, a protein found in wheat, barley, and rye. In affected individuals, gluten causes an immune response that damages the lining of the small intestine. This damage impairs nutrient absorption, leading to symptoms such as diarrhea, bloating, weight loss, and fatigue. Celiac disease can also present with non-gastrointestinal symptoms, including anemia, skin rashes, and neurological issues. Diagnosis is based on serological tests for specific antibodies and confirmed by intestinal biopsy.
Insights on Celiac Disease
Celiac disease (CD) is a multisystem autoimmune condition strongly influenced by genetic susceptibility. Although it primarily affects the gastrointestinal tract, it can also involve several other organs. The global prevalence is estimated at around 1% of the population, though many individuals remain undiagnosed because symptoms can be mild, atypical, or absent. The disorder is triggered by the ingestion of gluten, a group of proteins that constitutes the majority of the protein content in common cereal grains such as wheat, barley, and rye.
In susceptible individuals, gluten exposure induces an immune-mediated inflammatory reaction in the small intestine, resulting in damage to the intestinal mucosa. This intestinal injury, known as enteropathy, impairs nutrient absorption and may lead to various clinical manifestations. Both genetic and environmental factors contribute to disease development, particularly the presence of HLA-DQ2 (DQ2.2 and DQ2.5) and HLA-DQ8 alleles, which encode specific immune receptors associated with increased susceptibility.
The majority of celiac disease cases remain undiagnosed, leading to significant long-term health complications if untreated.
1%
of the world's population is affected by Celiac disease
75%
cases remain undiagnosed
4x
higher risk of osteoporosis if untreated
How do we diagnose Celiac Disease?
Diagnosis of celiac disease typically involves a combination of clinical evaluation, serological tests, and histological examination. IgA tissue transglutaminase (tTG IgA) is the most efficient serological test for the diagnosis of celiac disease. Anti-tTG IgA levels correlate with the degree of intestinal damage, and values can fluctuate with disease activity. Anti-tTG tests can be used to support diagnosis in symptomatic individuals, to screen at-risk populations, or to monitor diet compliance in patients previously diagnosed with celiac disease.
Antibodies directed against deamidated gliadin protein epitopes (DGP) bind to epitopes of deamidated gliadin fragments that are relevant for celiac disease pathogenesis. DGPs are formed by the action of tTG on native dietary gliadin.
Anti-endomysium antibody (EMA) testing serves as a reliable confirmatory marker, supporting accurate diagnosis and effective patient management.
Knowledge & Science
Instruments for diagnosing Celiac Disease
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References
a) Husby S, Koletzko S, Korponay-Szabó I, Kurppa K, Mearin ML, Ribes-Koninckx C, Shamir R, Troncone R, Auricchio R, Castillejo G, Christensen R, Dolinsek J, Gillett P, Hróbjartsson A, Koltai T, Maki M, Nielsen SM, Popp A, Størdal K, Werkstetter K, Wessels M. European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020. J Pediatr Gastroenterol Nutr. 2020 Jan;70(1):141-156.
b) Catassi C, Verdu EF, Bai JC, Lionetti E. Coeliac disease. Lancet. 2022 Jun 25;399(10344):2413-2426.
c) Kondapalli AV, Walker MD. Celiac disease and bone. Arch Endocrinol Metab. 2022 Nov 11;66(5):756-764.
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