Clinical practice: Celiac disease

Center for Celiac Research, University of Maryland School of Medicine, Baltimore, MD, USA.
New England Journal of Medicine (Impact Factor: 55.87). 12/2012; 367(25):2419-26. DOI: 10.1056/NEJMcp1113994
Source: PubMed
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    • "The GI form prevailed among the cases with active disease, which was detected in all the group DS patients and in most of the group DM1 patients, thus contributing to the visible portion of the iceberg. When all forms of the disease were analyzed in combination, the higher prevalence of potential CelD was largely determinant of the large and submerged base of the iceberg (Figure 1), which indicates that the silent form may not be the most frequent, as indicated by previous studies [2] [7] [14] [19] [21]. The disease profile might have changed after the advent of more sensitive and specific serological markers, such as EmA and antitTG , which allow identifying patients with positive antibodies, but still without compatible histopathological findings. "
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    ABSTRACT: The objective of this study is to investigate the occurrence of gastrointestinal (GI) and extraintestinal symptoms in children and adolescents with type 1 diabetes mellitus (DM1) and Down syndrome (DS) and their association with specific antibodies and histopathology of celiac disease (CelD), representing its clinical forms in the iceberg. Cross-sectional study (November 2009-December 2012) conducted at an outpatient care facility in Northeast Brazil including patients [DM1 (n = 111); DS (n = 77)] aged 10 months-18 years old. Measurement of anti-endomysial (EmA) and anti-tissue transglutaminase (anti-tTG) IgA antibodies was performed, as was that of anti-tTG-IgG in the cases with low serum IgA. The patients with antibody positivity were subjected to small intestine biopsy. GI symptoms occurred in 53.7% of the sample, extraintestinal symptoms in 4.3%, and antibody positivity in 28.2% (n = 53). Of those who underwent biopsy (n = 40), histopathological findings of CelD were found in 37.5% [DM1 = 5/111 (4.5%), DS = 10/77 (13.0%)]. GI symptoms were associated with antibody positivity, but not with the histopathology. The GI (32.5%), silent (5.0%), and potential (62.5%) forms of disease were detected. The prevalence of GI symptoms was high in groups DM1 and DS, and the occurrence of such symptoms was associated with antibody positivity. The lack of association between the symptoms and histopatholological findings points to the inconsistency of the former as indicators of CelD. Although the GI form predominated among the cases with active CelD, its contribution to the celiac iceberg was smaller compared with the potential form, which determined the large and submerged base of the iceberg representing the high-risk groups investigated.
    Scandinavian Journal of Gastroenterology 09/2015; DOI:10.3109/00365521.2015.1079645 · 2.36 Impact Factor
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    • "Screening for CD in adults 829 observed in the background population [2] [30] [31]. An early diagnosis of CD is important, since untreated CD may cause micronutrient deficiencies and complications such as osteoporosis , anemia, growth retardation, infertility, and neurological disorders [32] [33]. "
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    ABSTRACT: Objective: The prevalence of celiac disease (CD) as recorded in the Danish National Patient Registry is ∼50/100,000 persons. This is much lower than the reported prevalence of CD in other Nordic countries and underdiagnosis is suspected. Our aim was to estimate the prevalence of CD in a population-based study of Danish adults. Methods: A total of 2297 adults aged 24-76 years living in the southwestern part of Copenhagen were screened for CD by immunoglobulin (Ig)A and IgG antibodies to transglutaminases and deamidated gliadin. IgA/IgG-positive participants were invited to a clinical evaluation, including biopsies, by a gastroenterologist. Results: Of the invited 56 participants, 40 underwent a full clinical evaluation and 8 persons were diagnosed with CD; 2 of the 16 persons, who did not complete the clinical evaluation, were considered by experts to have probable CD. None of the above 56 participants had a known history of CD or a recorded diagnosis of CD in National Patient Registry. By combining cases of biopsy-proven CD (n = 8), probable CD (n = 2), and registry-recorded CD (n = 1), the prevalence of CD was estimated to be 479/100,000 (11/2297) persons (95% CI: 197-761). Conclusion: In this general adult population, the prevalence of CD as estimated by screening and clinical evaluation was 10 times higher than the registry-based prevalence of CD. Of 11 participants diagnosed with CD in our screening study, 10 were unaware of the diagnosis prior to the study. Thus, our study suggests that CD is markedly underdiagnosed in Danish adults.
    Scandinavian Journal of Gastroenterology 02/2015; 50(7):1-7. DOI:10.3109/00365521.2015.1010571 · 2.36 Impact Factor
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    • "The major component of the genetic predisposition, explaining about 40% of it, depends on some HLA-related class II genes: most CD patients are HLA-DQ2 positive (90%), while half of the remaining 10% are HLA-DQ8 positive. As concerns the environmental factors, the ingestion of gliadin and glutenin fractions of wheat gluten and similar alcohol-soluble proteins in other grains (rye and barley) triggers the development of the celiac enteropathy, as well as other disease manifestations [1] [2] [3]. "
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    ABSTRACT: Celiac disease is an immune-mediated disorder triggered by gluten in genetically susceptible persons. Despite its detrimental effects on human health, it has not disappeared over time. The current evolutionary theory is that celiac disease is more common in areas reached later by agricultural revolution than in countries that started consumption of wheat earlier, due to negative selection caused by celiac disease. We reviewed data on worldwide prevalence of celiac disease, wheat consumption, and frequencies of HLA-celiac-disease-predisposing-genotypes to investigate their mutual relationship. Studies assessing prevalence of celiac disease were identified through a MEDLINE search. Wheat consumption and frequencies of HLA-DQ2-DQ8 were obtained from Food and Agriculture Organization of the United Nations and database. Correlations between celiac disease, wheat consumption, and HLA were analyzed by linear regression. We observed a significant correlation between wheat consumption and HLA DQ2 (p = 0.01) and the sum of DQ2 and DQ8 (p = 0.01) frequencies. Wheat consumption and HLA-DQ2 tend to co-localize in different continents. The correlation between the prevalence of celiac disease and either DQ2 and/or DQ8, or the product of DQ2 + DQ8*wheat consumption was not statistically significant. Co-localization of gluten consumption and HLA-celiac-disease-predisposing-genotypes can be explained by positive selection of HLA-DQ2 genes in wheat-consuming areas, and “demic diffusion” of Middle East farmers into Europe.
    Digestive and Liver Disease 12/2014; 46(12). DOI:10.1016/j.dld.2014.08.002 · 2.96 Impact Factor
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