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      Celiac disease with cerebral and peripheral nerve involvement mimicking multiple sclerosis

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          Abstract

          Abstract

          Objectives: Due to the similarity in the clinical presentation, morphology, and course, celiac disease (CD) may be mixed up with other immunological disorders, such as multiple sclerosis (MS).

          Case report: In a 43-year-old Caucasian male with a history of diarrhea and colics since young age, progressive sensory disturbances developed since age 18 years. At age 34, he was diagnosed as relapsing-remitting MS upon an inflammatory CSF-syndrome and non-specific white matter lesions and treated with interferon beta-1b during the next 8 years without effect. At age 35, axonal polyneuropathy and ataxia were diagnosed. Despite normal anti-gliadin, endomysial, and transglutaminase antibodies, CD was diagnosed at age 41, based upon the history, polyneuropathy, positivity for HLA-DQ2 and HLA-DQ8, the white matter lesions, and a beneficial response of the gastrointestinal problems and polyneuropathy to gluten-free diet.

          Conclusions: CD may mimic MS and may be present despite the absence of anti-gliadin, endomysial or transglutaminase antibodies. CD should be considered if there is a gastrointestinal problem, polyneuropathy, and ataxia, even if CSF and MRI findings are suggestive of MS.

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          Most cited references27

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          Newly identified genetic risk variants for celiac disease related to the immune response.

          Our genome-wide association study of celiac disease previously identified risk variants in the IL2-IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide association study data (767 cases, 1,422 controls), we identified seven previously unknown risk regions (P < 5 x 10(-7)). Six regions harbor genes controlling immune responses, including CCR3, IL12A, IL18RAP, RGS1, SH2B3 (nsSNP rs3184504) and TAGAP. Whole-blood IL18RAP mRNA expression correlated with IL18RAP genotype. Type 1 diabetes and celiac disease share HLA-DQ, IL2-IL21, CCR3 and SH2B3 risk regions. Thus, this extensive genome-wide association follow-up study has identified additional celiac disease risk variants in relevant biological pathways.
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            Accuracy of diagnostic antibody tests for coeliac disease in children: summary of an evidence report.

            The aim of this study was to summarise the evidence from 2004 to September 2009 on the performance of laboratory-based serological and point of care (POC) tests for diagnosing coeliac disease (CD) in children using histology as reference standard. We searched MEDLINE and EMBASE for studies reporting on children for tests based on IgA and IgG anti-gliadin (AGA), endomysial (EmA), anti-transglutaminase-2 (TG2), and anti-deamidated gliadin peptides (DGP) antibodies or POC tests. For inclusion, histological analysis of duodenal biopsies and sensitivity and specificity for index tests had to be reported. Data were pooled and summary measures calculated for sensitivity, specificity, positive and negative likelihood ratios ("LR+", "LR-"), and diagnostic odds ratios (DOR). In case of elevated statistical heterogeneity, studies reaching 90% sensitivity or specificity were reported. A total of 2510 articles were reviewed; 16 entered meta-analysis, reporting on 3110 patients (1876 with CD, 1234 without CD). For IgA-EmA, sensitivity was ≥90% in 7/11 studies and pooled specificity 98.2%. For IgA-anti-TG2, 11/15 studies yielded sensitivities ≥90% and 13/15 specificities ≥90%. For IgA-DGP, sensitivity ranged between 80.7% and 95.1% (specificity 86.3%-93.1%); for IgG-DGP between 80.1% and 98.6% (specificity 86.0-96.9%). IgA-EmA had the highest pooled DOR (554) and LR+ (31.8) for a laboratory test, followed by IgA-anti-TG2, IgG-DGP, IgA-DGP and IgA-AGA. POC tests showed a pooled sensitivity of 96.4% for IgA-TG2 (specificity 97.7%). IgA-EmA and IgA-anti-TG2 tests appear highly accurate to diagnose CD. IgG-anti-DGP tests may help in excluding CD. IgA-AGA and IgA-DGP tests show inferior accuracy. POC tests may achieve high accuracy in the hands of experienced readers, but IgA-anti-TG2/EmA were superior.
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              Celiac disease.

              To summarize recent advances in celiac disease published between August 2008 and July 2009. Celiac disease affects nearly 1% of most populations but remains largely unrecognized. In the last year, work has shown that the prevalence of celiac disease has increased dramatically, not simply due to increased detection. Also, undiagnosed celiac disease may be associated with increased mortality. Significant progress has been made in understanding how gliadin peptides can cross the intestinal border and access the immune system. New genetic loci and candidate genes that may contribute to the risk of celiac disease and its overlap with type 1 diabetes mellitus have been identified. Novel deamidated gliadin peptides antibodies have better diagnostic accuracy over native gliadin-based tests. The inclusion of duodenal bulb biopsy specimens may increase the rate of celiac disease detection. The spectrum of celiac disease likely includes a minority of patients with mild enteropathy. A practical seven-item instrument may facilitate standardized evaluation of gluten-free diet adherence. Finally, refractory celiac disease, although rare, is associated with a poor prognosis. Celiac disease is a global health problem that requires a multidisciplinary and increasingly cooperative multinational research effort.
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                Author and article information

                Journal
                J Med Life
                J Med Life
                JMedLife
                Journal of Medicine and Life
                Carol Davila University Press (Romania )
                1844-122X
                1844-3117
                15 September 2014
                25 September 2014
                : 7
                : 3
                : 440-444
                Affiliations
                [* ]Krankenanstalt Rudolfstiftung, Vienna, Austria
                [** ]Department of Neurology, Medical University Vienna, Austria
                Author notes
                Correspondence to:Josef Finsterer, MD, PhD Postfach 20, 1180 Vienna, Austria, Europe Phone: +43-1-71165, E-mail: fifigs1@yahoo.de
                Article
                JMedLife-07-440
                4233456
                2477918e-f646-4b5c-953e-e03fea18c45b
                ©Carol Davila University Press

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 19 February 2014
                : 25 June 2014
                Categories
                Special Article

                Medicine
                immunology,autoantibodies,immunosuppression,interferon,nerve conduction
                Medicine
                immunology, autoantibodies, immunosuppression, interferon, nerve conduction

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