No abstract

This is the first study demonstrating that children with CD may have patchy villous atrophy of the duodenum. The bulb mucosa may be the only duodenal area involved, both at diagnosis and after gluten challenge. Therefore, multiple endoscopic biopsies should always be performed, not only in the distal duodenum, but also in the bulb.

This study reconfirms a high prevalence of celiac disease in Down syndrome. However, the diagnostic delay, the detection of atypical symptoms or silent form in one third of the cases, and the increased incidence of autoimmune disorders suggest the need for the screening of celiac disease in all Down syndrome patients.

Objectives-Measurement of transglutaminase autoantibodies (TGAA) is considered to be the most efficient single serologic test for celiac disease (CD) by the American Gastroenterological Association Institute. We hypothesized that a large international collaborative effort toward improving and standardizing TGAA measurement is both feasible and necessary. The primary aim of this workshop is to compare TGAA assays among various research and clinical laboratories and examine assay concordance and improve (and eventually standardize) the TGAA assay. Guarantor of the article: Edwin Liu, MD. Methods Specific author contributions:Marcella Li: performed the bulk of the labor with organizing/aliquoting the sera, shipping, and performing related assays; Liping Yu: responsible for the quality control of our radioassay and also helped with data analysis, trouble shooting, planning details of the workshop. Our laboratory was used as a "reference lab"; Claudio Tiberti: contributed sera to the workshop, helped plan initial stages of workshop and paper preparation; Margherita Bonamico: participated in data analysis and paper preparation; Iman Taki: in charge of collecting the bulk of our sera at the institution and organizing the workshop; Dongmei Miao: technician performed radioassay and also performed the assay to serve as a reference for other laboratories; Joseph A. Murray: organized the workshop and paper preparation; Marian J. Rewers: contributed sera for our laboratory and helped plan the workshop; Edward J. Hoffenberg: mentor for the senior author, provided help in planning the workshop and recruiting participants; Daniel Agardh: contributed sera for the workshop, data analysis, and paper preparation; Patricia Mueller: contributed the control sera for the workshop, data analysis, and paper preparation; Martin Stern and Ezio Bonifacio: planned the details of the workshop, data analysis, and paper preparation; Edwin Liu: organized the workshop, communication with participants, overseeing our laboratory, data analysis, and paper preparation. NIH Public Access Author ManuscriptAm J Gastroenterol. Author manuscript; available in PMC 2010 July 15. NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript radiobinding assays. A total of 150 serum samples were distributed to each laboratory, with each laboratory receiving an equal aliquot that was coded and blinded, composed of 100 healthy control sera and 50 CD sera.Results-Laboratory sensitivity ranged from 69% to 93% and specificity ranged from 96% to 100%. By receiver operator characteristic analysis, the area under the curve (C index) ranged from 0.9488 to 0.9904. When analyzing for linear correlation, r-squared was as high as 0.8882 but as low as 0.4244 for the celiac samples between different laboratories performing ELISA.Conclusions-This transglutaminase autoantibody workshop allows for larger-scale international participation for the purposes of improving and eventually standardizing the TGAA assay with subsequent workshops.

A multicenter study of Turner syndrome (TS) patients was carried out to estimate the prevalence of celiac disease (CD) and to detect clinical characteristics and laboratory data of affected patients. Three hundred eighty-nine girls with TS were screened by IgA antigliadin antibodies and/or antiendomysial antibodies. Intestinal biopsy was offered to positive cases. CD was diagnosed in 25 patients. In celiac subjects, anemia, anorexia, and delayed growth (with respect to Italian TS curves) were frequently present; whereas distended abdomen, chronic diarrhea, constipation, and vomiting occurred more rarely. In addition, low serum iron levels, hemoglobinemia, and high values of aminotransferases were observed. Ten patients showed classic CD, 8 showed atypical symptoms, and 7 showed a silent CD. In 11 symptomatic patients, the diagnosis of CD was made at the onset of symptoms, whereas 7 of them showed a median delay of 79 months in diagnosis. Other autoimmune disorders were observed in 40% of the patients. Our study confirms the high prevalence (6.4%) of CD in a large series of TS patients. Moreover, the subclinical picture in 60% of the cases, the diagnostic delay, and the incidence of other autoimmune disorders suggest that routine screening of CD in TS is indicated.

On the basis of a carefully conducted study, CD prevalence in our series was seen as very high. These data suggest an accurate algorithm to select candidates for intestinal biopsy among CD high-risk subjects. First, an evaluation of the sensitive RIA TGAA and of total IgA (in IgA deficiency RIA IgG anti-tissue transglutaminase assay) should be performed. Then, an evaluation of the TGAA and the genetic study would be advisable 2 to 3 years later in negative subjects. Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up; the others need a clinical follow-up.

The high frequency of autoimmune thyroid disease found among patients with CD, even those on a gluten-free diet, may justify a thyroid status assessment at diagnosis and at follow-up evaluation of children with CD.

This study demonstrated that CD-related histological lesions are always present in the bulb; sometimes this specific site is the only one affected. Therefore, we suggest taking 2 biopsies from the bulb and 2 from the distal duodenum for CD diagnosis.