The Changing Clinical Profile of Celiac Disease
The Changing Clinical Profile of Celiac Disease
Until the end of the second millennium, the classic view of celiac disease (CD) was that of a rare food intolerance characterized by villous atrophy and overt malabsorption mainly affecting pediatric patients. Recently, CD has markedly changed due to considerable advances in the knowledge of its pathogenic and diagnostic aspects. CD is now an established autoimmune disorder triggered by gluten which activates an immune reaction against the CD autoantigen, i.e. tissue transglutaminase (TG2), in genetically predisposed subjects. The genetic susceptibility to CD is confirmed by its occurrence in about 10% of first-degree relatives and by its close linkage with histocompatibility leukocyte antigens (HLA)-DQ2 and -DQ8. Environmental factors such as breastfeeding, timing of weaning, viral/bacterial infections and microbiota changes can play a role in the onset of CD at any age.
The identification of biomarkers, e.g. antibodies to endomysium (EmA) and to TG2 (anti-TG2), has changed the epidemiology of CD from a rare to a frequent condition with an expected prevalence higher than 1% in the worldwide population. Nonetheless, the majority of patients with CD remain undiagnosed leaving the celiac 'iceberg' still submerged. Serological screening has allowed an early CD diagnosis in its preclinical stage with the result that symptom presentation has radically changed compared to the past. Indeed, CD is less commonly detected in patients with diarrhea, rather it occurs frequently in patients with other gastrointestinal symptoms, i.e. constipation and bloating, as well as with extra-intestinal manifestations and even in asymptomatic patients. The different mode of presentation has led experts to elaborate the Oslo classification which subdivides CD in symptomatic, i.e. "classical" and "non-classical", vs. clinically silent, i.e. "subclinical", phenotypes.
In this study we retrospectively examined the clinical presentation of a large cohort of consecutive CD adult patients diagnosed in a single Italian referral center during a 15-year period. Our primary goal was to verify whether non-classical and subclinical CD increased over time compared to the classical CD. Furthermore, we aimed to define serology, histopathology, response to gluten free diet (GFD) and occurrence of complications in CD.
Background
Until the end of the second millennium, the classic view of celiac disease (CD) was that of a rare food intolerance characterized by villous atrophy and overt malabsorption mainly affecting pediatric patients. Recently, CD has markedly changed due to considerable advances in the knowledge of its pathogenic and diagnostic aspects. CD is now an established autoimmune disorder triggered by gluten which activates an immune reaction against the CD autoantigen, i.e. tissue transglutaminase (TG2), in genetically predisposed subjects. The genetic susceptibility to CD is confirmed by its occurrence in about 10% of first-degree relatives and by its close linkage with histocompatibility leukocyte antigens (HLA)-DQ2 and -DQ8. Environmental factors such as breastfeeding, timing of weaning, viral/bacterial infections and microbiota changes can play a role in the onset of CD at any age.
The identification of biomarkers, e.g. antibodies to endomysium (EmA) and to TG2 (anti-TG2), has changed the epidemiology of CD from a rare to a frequent condition with an expected prevalence higher than 1% in the worldwide population. Nonetheless, the majority of patients with CD remain undiagnosed leaving the celiac 'iceberg' still submerged. Serological screening has allowed an early CD diagnosis in its preclinical stage with the result that symptom presentation has radically changed compared to the past. Indeed, CD is less commonly detected in patients with diarrhea, rather it occurs frequently in patients with other gastrointestinal symptoms, i.e. constipation and bloating, as well as with extra-intestinal manifestations and even in asymptomatic patients. The different mode of presentation has led experts to elaborate the Oslo classification which subdivides CD in symptomatic, i.e. "classical" and "non-classical", vs. clinically silent, i.e. "subclinical", phenotypes.
In this study we retrospectively examined the clinical presentation of a large cohort of consecutive CD adult patients diagnosed in a single Italian referral center during a 15-year period. Our primary goal was to verify whether non-classical and subclinical CD increased over time compared to the classical CD. Furthermore, we aimed to define serology, histopathology, response to gluten free diet (GFD) and occurrence of complications in CD.
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