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      Celiac disease with cerebral and peripheral nerve involvement mimicking multiple sclerosis


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          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 references 27

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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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              Utilization of healthcare resources by U.S. children and adults with inflammatory bowel disease.

              The inflammatory bowel diseases (IBDs) Crohn's disease (CD) and ulcerative colitis (UC) affect over 1 million people in the United States, yet little is known about healthcare utilization by affected individuals. The objectives were to describe the healthcare utilization associated with IBD in an insured U.S. population and to determine how sociodemographic factors impact healthcare utilization in this population. Using an administrative database comprised of 87 health plans, we ascertained cases of CD and UC using an administrative definition. We identified inpatient, office-based, emergency (ED), and endoscopy services occurring between 2003-2004 in IBD patients and matched controls. For each case, excess utilization was determined by subtracting the mean number of control visits from the number of case visits. Multivariate logistic and linear regressions were used to identify the sociodemographic factors associated with excess utilization. We identified 9056 CD patients and 10,364 UC patients. The mean number of annual excess hospitalizations, ED visits, and office visits per 100 patients for CD were 21.7, 20.1, and 493, respectively. These values for UC were 13.3, 10.3, and 364, respectively. In general, utilization was higher in CD compared with UC, and in younger patients compared with older patients. Utilization also varied by gender, geographical region, and insurance type (Medicaid versus commercial). In the U.S., patients with IBD consume substantial healthcare resources. Resource utilization varies by patient age and disease type, and to a lesser extent, gender, geographical region, and insurance type. These findings may be used to inform health policy. Copyright © 2010 Crohn's & Colitis Foundation of America, Inc.

                Author and article information

                J Med Life
                J Med Life
                Journal of Medicine and Life
                Carol Davila University Press (Romania )
                15 September 2014
                25 September 2014
                : 7
                : 3
                : 440-444
                [* ]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
                ©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.

                Special Article


                immunology, autoantibodies, immunosuppression, interferon, nerve conduction


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