698
Views
26
CrossRef citations to date
0
Altmetric
Research Article

An Update on the Diagnostics of Celiac Disease

, &
Pages 185-196 | Accepted 30 May 2011, Published online: 25 Jul 2011

REFERENCES

  • Walker-Smith JA, Guandalini S, Schmitz J, Revised criteria for diagnosis of coeliac disease. Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition. Arch Dis Child. 1990;65:909–911.
  • Mäki M, Kallonen K, Lähdeaho ML, Visakorpi JK. Changing pattern of childhood coeliac disease in Finland. Acta Paediatr Scand. 1988;77:408–412.
  • Rampertab SD, Pooran N, Brar P, Trends in the presentation of celiac disease. Am J Med. 2006;119:355.e9–e14.
  • Collin P, Huhtala H, Virta L, Diagnosis of celiac disease in clinical practice: physician's alertness to the condition essential. J Clin Gastroenterol. 2007;41:152–156.
  • Collin P, Kaukinen K, Välimäki M, Salmi J. Endocrinological disorders and celiac disease. Endocr Rev. 2002;23:464–483.
  • Mäki M, Holm K, Lipsanen V, Serological markers and HLA genes among healthy first-degree relatives of patients with coeliac disease. Lancet. 1991;338:1350–1353.
  • Mäki M, Mustalahti K, Kokkonen J, Prevalence of celiac disease among children in Finland. N Engl J Med. 2003;348:2517–2524.
  • Fasano A, Berti I, Gerarduzzi T, Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med. 2003;163:286–292.
  • Lohi S, Mustalahti K, Kaukinen K, Increasing prevalence of coeliac disease over time. Aliment Pharmacol Ther. 2007;26:1217–1225.
  • Mustalahti K, Catassi C, Reunanen A, The prevalence of celiac disease in Europe: results of a centralized, international mass screening project. Ann Med. 2010;42:587–595.
  • Rubio-Tapia A, Kyle RA, Kaplan EL, Increased prevalence and mortality in undiagnosed celiac disease. Gastroenterology. 2009;137:88–93.
  • Vilppula A, Kaukinen K, Luostarinen L, Increasing prevalence and high incidence of celiac disease in elderly people: a population-based study. BMC Gastroenterol. 2009;9:49.
  • West J, Logan RF, Hill PG, Seroprevalence, correlates, and characteristics of undetected coeliac disease in England. Gut. 2003;52:960–965.
  • Catassi C, Cellier C, Cerf-Bensussan N, When is a coeliac a coeliac? Report of a working group of the United European Gastroenterology Week in Amsterdam, 2001. Eur J Gastroenterol Hepatol. 2001;13:1123–1128.
  • Rostom A, Dube C, Cranney A, The diagnostic accuracy of serologic tests for celiac disease: a systematic review. Gastroenterology. 2005;128 ( Suppl):S38–S46.
  • Stern M; Working Group on Serologic Screening for Celiac Disease. Comparative evaluation of serologic tests for celiac disease: a European initiative toward standardization. J Pediatr Gastroenterol Nutr. 2000;31:513–519.
  • Collin P, Kaukinen K, Vogelsang H, Antiendomysial and antihuman recombinant tissue transglutaminase antibodies in the diagnosis of coeliac disease: a biopsy-proven European multicentre study. Eur J Gastroenterol Hepatol. 2005;17:85–91.
  • Volta U, Granito A, Fiorini E, Usefulness of antibodies to deamidated gliadin peptides in celiac disease diagnosis and follow-up. Dig Dis Sci. 2008;53:1582–1588.
  • Sulkanen S, Halttunen T, Laurila K, Tissue transglutaminase autoantibody enzyme-linked immunosorbent assay in detecting celiac disease. Gastroenterology. 1998;115:1322–1328.
  • Rostami K, Kerckhaert J, Tiemessen R, Sensitivity of antiendomysium and antigliadin antibodies in untreated celiac disease: disappointing in clinical practice. Am J Gastroenterol. 1999;94:888–894.
  • Salmi TT, Collin P, Korponay-Szabó IR, Endomysial antibody-negative coeliac disease: clinical characteristics and intestinal autoantibody deposits. Gut. 2006;55:1746–1753.
  • Maglio M, Tosco A, Paparo F, Serum and intestinal celiac disease-associated antibodies in children with celiac disease younger than 2 years of age. J Pediatr Gastroenterol Nutr. 2010;50:43–48.
  • Abrams JA, Diamond B, Rotterdam H, Green PH. Seronegative celiac disease: increased prevalence with lesser degrees of villous atrophy. Dig Dis Sci. 2004;49:546–550.
  • Salmi TT, Collin P, Järvinen O, Immunoglobulin A autoantibodies against transglutaminase 2 in the small intestinal mucosa predict forthcoming coeliac disease. Aliment Pharmacol Ther. 2006;24:541–552.
  • Kurppa K, Collin P, Viljamaa M, Diagnosing mild enteropathy celiac disease: a randomized, controlled clinical study. Gastroenterology. 2009;136:816–823.
  • Kurppa K, Ashorn M, Iltanen S, Celiac disease without villous atrophy in children: a prospective study. J Pediatr. 2010;157:373–380.
  • Dieterich W, Ehnis T, Bauer M, Identification of tissue transglutaminase as the autoantigen of celiac disease. Nat Med. 1997;3:797–801.
  • Park D, Choi SS, Ha KS. Transglutaminase 2: a multi-functional protein in multiple subcellular compartments. Amino Acids. 2010;39:619–631.
  • Lewis NR, Scott BB. Systematic review: the use of serology to exclude or diagnose coeliac disease (a comparison of the endomysial and tissue transglutaminase antibody tests). Aliment Pharmacol Ther. 2006;24:47–54.
  • Wong RC, Wilson RJ, Steele RH, A comparison of 13 guinea pig and human anti-tissue transglutaminase antibody ELISA kits. J Clin Pathol. 2002;55:488–494.
  • Raivio T, Korponay-Szabó IR, Paajanen T, Comparison of a novel whole blood transglutaminase-based ELISA with a whole blood rapid antibody test and established conventional serological celiac disease assays. J Pediatr Gastroenterol Nutr. 2008;47:562–567.
  • Katz KD, Rashtak S, Lahr BD, Screening for celiac disease in a North American population: sequential serology and gastrointestinal symptoms. Am J Gastroenterol. 2011;106:1333–1339.
  • Sulkanen S, Collin P, Laurila K, Mäki M. IgA- and IgG-class antihuman umbilical cord antibody tests in adult coeliac disease. Scand J Gastroenterol. 1998;33:251–254.
  • Korponay-Szabó IR, Laurila K, Szondy Z, Missing endomysial and reticulin binding of coeliac antibodies in transglutaminase 2 knockout tissues. Gut. 2003;52:199–204.
  • Van Meensel B, Hiele M, Hoffman I, Diagnostic accuracy of ten second-generation (human) tissue transglutaminase antibody assays in celiac disease. Clin Chem. 2004;50:2125–2135.
  • Reeves GE, Squance ML, Duggan AE, Diagnostic accuracy of coeliac serological tests: a prospective study. Eur J Gastroenterol Hepatol. 2006;18:493–501.
  • Pinkas DM, Strop P, Brunger AT, Khosla C. Transglutaminase 2 undergoes a large conformational change upon activation. PLoS Biol. 2007;5:e327.
  • Lindfors K, Koskinen O, Kurppa K, Serodiagnostic assays for celiac disease based on the open or closed conformation of the autoantigen, transglutaminase 2. J Clin Immunol. 2011;31:436–442.
  • Naiyer AJ, Hernandez L, Ciaccio EJ, Comparison of commercially available serologic kits for the detection of celiac disease. J Clin Gastroenterol. 2009;43:225–232.
  • Sugai E, Moreno ML, Hwang HJ, Celiac disease serology in patients with different pretest probabilities: is biopsy avoidable? World J Gastroenterol. 2010;16:3144–3152.
  • Korponay-Szabo IR, Szabados K, Pusztai J, Population screening for coeliac disease in primary care by district nurses using a rapid antibody test: diagnostic accuracy and feasibility study. BMJ. 2007;335:1244–1247.
  • Baviera LC, Aliaga ED, Ortigosa L, Celiac disease screening by immunochromatographic visual assays: results of a multicenter study. J Pediatr Gastroenterol Nutr. 2007;45:546–550.
  • Ferre-López S, Ribes-Koninckx C, Genzor C, Immunochromatographic sticks for tissue transglutaminase and antigliadin antibody screening in celiac disease. Clin Gastroenterol Hepatol. 2004;2:480–484.
  • Dulay S, Lozano-Sánchez P, Iwuoha E, Electrochemical detection of celiac disease-related anti-tissue transglutaminase antibodies using thiol based surface chemistry. Biosens Bioelectron. doi:10.1016/j.bios.2011.02.045.
  • Raivio T, Kaukinen K, Nemes E, Self transglutaminase-based rapid coeliac disease antibody detection by a lateral flow method. Aliment Pharmacol Ther. 2006;24:147–154.
  • Alarida K, Harown J, Ahmaida A, Coeliac disease in Libyan children: a screening study based on the rapid determination of anti-transglutaminase antibodies. Dig Liver Dis. doi:10.1016/j.dld.2011.01.002
  • Ruuskanen A, Kaukinen K, Collin P, Positive serum antigliadin antibodies without celiac disease in the elderly population: does it matter? Scand J Gastroenterol. 2010;45:1197–1202.
  • Laass MW, Koch T, Lösel A, Longitudinal follow-up examination of antigliadin antibody positive children and adults. Eur J Gastroenterol Hepatol. 2006;18:503–506.
  • Kaukinen K, Turjanmaa K, Mäki M, Intolerance to cereals is not specific for coeliac disease. Scand J Gastroenterol. 2000;35:942–946.
  • Michaelsson G, Gerden B, Hagforsen E, Psoriasis patients with antibodies to gliadin can be improved by a gluten-free diet. Br J Dermatol. 2000;142:44–51.
  • Tursi A, Giorgetti GM, Brandimarte G, Elisei W. High prevalence of celiac disease among patients affected by Crohn's disease. Inflamm Bowel Dis. 2005;11:662–666.
  • Hadjivassiliou M, Sanders DS, Grünewald RA, Gluten sensitivity: from gut to brain. Lancet Neurol. 2010;9:318–330.
  • Sapone A, Lammers KM, Casolaro V, Divergence of gut permeability and mucosal immune gene expression in two gluten-associated conditions: celiac disease and gluten sensitivity. BMC Med. 2011;9:23
  • Simell S, Hoppu S, Hekkala A, Fate of five celiac disease-associated antibodies during normal diet in genetically at-risk children observed from birth in a natural history study. Am J Gastroenterol. 2007;102:2026–2035.
  • Molberg O, Mcadam SN, Körner R, Tissue transglutaminase selectively modifies gliadin peptides that are recognized by gut-derived T cells in celiac disease. Nat Med. 1998;4: 713–717.
  • van de Wal Y, Kooy Y, van Veelen P, Selective deamidation by tissue transglutaminase strongly enhances gliadin-specific T cell reactivity. J Immunol. 1998;161:1585–1588.
  • Prince HE. Evaluation of the INOVA diagnostics enzyme-linked immunosorbent assay kits for measuring serum immunoglobulin G (IgG) and IgA to deamidated gliadin peptides. Clin Vaccine Immunol. 2006;13:150–151.
  • Kaukinen K, Collin P, Laurila K, Resurrection of gliadin antibodies in coeliac disease: deamidated gliadin peptide antibody test provides additional diagnostic benefit. Scand J Gastroenterol. 2007;42:1428–1433.
  • Lewis NR, Scott BB. Meta-analysis: deamidated gliadin peptide antibody and tissue transglutaminase antibody compared as screening tests for coeliac disease. Aliment Pharmacol Ther. 2010;31:73–81.
  • Villalta D, Tonutti E, Prause C, IgG antibodies against deamidated gliadin peptides for diagnosis of celiac disease in patients with IgA deficiency. Clin Chem. 2010;56:464–468.
  • Aleanzi M, Demonte AM, Esper C, Garcilazo S, Waggener M. Celiac disease: antibody recognition against native and selectively deamidated gliadin peptides. Clin Chem. 2001;47:2023–2028.
  • Sugai E, Vázquez H, Nachman F, Accuracy of testing for antibodies to synthetic gliadin-related peptides in celiac disease. Clin Gastroenterol Hepatol. 2006;4:1112–1117.
  • Karell K, Louka AS, Moodie SJ, HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease. Hum Immunol. 2003;64:469–477.
  • Kaukinen K, Partanen J, Mäki M, Collin P. HLA-DQ typing in the diagnosis of celiac disease. Am J Gastroenterol. 2002;97:695–699.
  • Dubois PC, Trynka G, Franke L, Multiple common variants for celiac disease influencing immune gene expression. Nat Genet. 2010;42:295–302.
  • Auricchio R, Granata V, Borrelli M, Troncone R; Italian Society for Pediatric Gastroenterology Hepatology and Nutrition (SIGENP). Italian paediatricians’ approach to coeliac disease diagnosis. J Pediatr Gastroenterol Nutr. 2009;49:374–376.
  • Stenhammar L, Högberg L, Danielsson L, How do Swedish paediatric clinics diagnose coeliac disease? Results of a nationwide questionnaire study. Acta Paediatr. 2006;95:1495–1497.
  • Collin P, Reunala T. Recognition and management of the cutaneous manifestations of celiac disease: a guide for dermatologists. Am J Clin Dermatol. 2003;4:13-20.
  • Freeman HJ. Adult celiac disease and the severe “flat” small bowel biopsy lesion. Dig Dis Sci. 2004;49:535–545.
  • Murray JA, Rubio-Tapia A, Van Dyke CT, Mucosal atrophy in celiac disease: extent of involvement, correlation with clinical presentation, and response to treatment. Clin Gastroenterol Hepatol. 2008;6:186–193.
  • Weir DC, Glickman JN, Roiff T, Variability of histopathological changes in childhood celiac disease. Am J Gastroenterol. 2010;105:207–212.
  • Ravelli A, Villanacci V, Monfredini C, How patchy is patchy villous atrophy? Distribution pattern of histological lesions in the duodenum of children with celiac disease. Am J Gastroenterol. 2010;105:2103–2110.
  • Bonamico M, Thanasi E, Mariani P, Duodenal bulb biopsies in celiac disease: a multicenter study. J Pediatr Gastroenterol Nutr. 2008;47:618–622.
  • Kurppa K, Koskinen O, Collin P, Changing phenotype of celiac disease after long-term gluten exposure. J Pediatr Gastroenterol Nutr. 2008;47:500–503.
  • Matysiak-Budnik T, Malamut G, de Serre NP, Long-term follow-up of 61 coeliac patients diagnosed in childhood: evolution toward latency is possible on a normal diet. Gut. 2007;56: 1379–1386.
  • Pais WP, Duerksen DR, Pettigrew NM, Bernstein CN. How many duodenal biopsy specimens are required to make a diagnosis of celiac disease? Gastrointest Endosc. 2008;67:1082–1087.
  • Rashid M, MacDonald A. Importance of duodenal bulb biopsies in children for diagnosis of celiac disease in clinical practice. BMC Gastroenterol. 2009;9:78.
  • Yantiss RK, Odze RD. Optimal approach to obtaining mucosal biopsies for assessment of inflammatory disorders of the gastrointestinal tract. Am J Gastroenterol. 2009;104:774–783.
  • Pinto Sanchez MI, Smecuol E, Vasquez H, Very high rate of misdiagnosis of celiac disease in clinical practise. Acta Gastroenterol Latinoam. 2009;39:250–253.
  • Troncone R, Ivarsson A, Szajewska H, Review article: future research on coeliac disease—a position report from the European multistakeholder platform on coeliac disease (CDEUSSA). Aliment Pharmacol Ther. 2008;27:1030–1043.
  • Salmi TT, Collin P, Reunala T, Diagnostic methods beyond conventional histology in coeliac disease diagnosis. Dig Liver Dis. 2010;42:28–32.
  • Koskinen O, Collin P, Lindfors K, Usefulness of small-bowel mucosal transglutaminase-2 specific autoantibody deposits in the diagnosis and follow-up of celiac disease. J Clin Gastroenterol. 2010;44:483–488.
  • Paparo F, Petrone E, Tosco A, Clinical, HLA, and small bowel immunohistochemical features of children with positive serum antiendomysium antibodies and architecturally normal small intestinal mucosa. Am J Gastroenterol. 2005;100:2294–2298.
  • Aziz I, Evans KE, Hopper AD, A prospective study into the aetiology of lymphocytic duodenosis. Aliment Pharmacol Ther. 2010;32:1392–1397.
  • Vande Voort JL, Murray JA, Lahr BD, Lymphocytic duodenosis and the spectrum of celiac disease. Am J Gastroenterol. 2009;104:142–148.
  • Kokkonen J, Holm K, Karttunen TJ, Mäki M. Children with untreated food allergy express a relative increment in the density of duodenal gammadelta+ T cells. Scand J Gastroenterol. 2000;35:1137–1142.
  • Järvinen TT, Collin P, Rasmussen M, Villous tip intraepithelial lymphocytes as markers of early-stage coeliac disease. Scand J Gastroenterol. 2004;39:428–433.
  • Goldstein NS, Underhill J. Morphologic features suggestive of gluten sensitivity in architecturally normal duodenal biopsy specimens. Am J Clin Pathol. 2001;116:63–71.
  • Pellegrino S, Villanacci V, Sansotta N, Redefining the intraepithelial lymphocytes threshold to diagnose gluten sensitivity in patients with architecturally normal duodenal histology. Aliment Pharmacol Ther. 2011;33:697–706.
  • Marzari R, Sblattero D, Florian F, Molecular dissection of the tissue transglutaminase autoantibody response in celiac disease. J Immunol. 2001;166:4170–4176.
  • Korponay-Szabó IR, Halttunen T, Szalai Z, In vivo targeting of intestinal and extraintestinal transglutaminase 2 by coeliac autoantibodies. Gut. 2004;53:641–648.
  • Maglio M, Tosco A, Auricchio R, Intestinal deposits of anti-tissue transglutaminase IgA in childhood celiac disease. Dig Liver Dis. doi:10.1016/j.dld.2011.01.015.
  • Tosco A, Salvati VM, Auricchio R, Natural history of potential celiac disease in children. Clin Gastroenterol Hepatol. 2011;9:320–325.
  • Catassi C, Fasano A. Celiac disease diagnosis: simple rules are better than complicated algorithms. Am J Med. 2010;123:691–693.
  • Kaukinen K, Collin P, Mäki M. Latent coeliac disease or coeliac disease beyond villous atrophy? Gut. 2007;56:1339–1340.
  • Barker CC, Mitton C, Jevon G, Mock T. Can tissue transglutaminase antibody titers replace small-bowel biopsy to diagnose celiac disease in select pediatric populations? Pediatrics. 2005;115:1341–1346.
  • Hill PG, Holmes GK. Coeliac disease: a biopsy is not always necessary for diagnosis. Aliment Pharmacol Ther. 2008;27:572–577.
  • Donaldson MR, Firth SD, Wimpee H,, et al. Correlation of duodenal histology with tissue transglutaminase and endomysial antibody levels in pediatric celiac disease. Clin Gastroenterol Hepatol. 2007;5:567–573.
  • Vivas S, Ruiz de Morales JG, Riestra S, Duodenal biopsy may be avoided when high transglutaminase antibody titers are present. World J Gastroenterol. 2009;15:4775–4780.
  • Kurppa K, Collin P, Sievänen H, Gastrointestinal symptoms, quality of life and bone mineral density in mild enteropathic coeliac disease: a prospective clinical trial. Scand J Gastroenterol. 2010;45:305–314.
  • Jain KK. Personalized clinical laboratory diagnostics. Adv Clin Chem. 2009;47:95–119.
  • Juuti-Uusitalo K, Mäki M, Kaukinen K, cDNA microarray analysis of gene expression in coeliac disease jejunal biopsy samples. J Autoimmun. 2004;22:249–265.
  • Diosdado B, Wapenaar MC, Franke L, A microarray screen for novel candidate genes in coeliac disease pathogenesis. Gut. 2004;53:944–951.
  • Bertini I, Calabrò A, De Carli V, The metabonomic signature of celiac disease. J Proteome Res. 2009;8:170–177.
  • Simula MP, Cannizzaro R, Canzonieri V, PPAR signaling pathway and cancer-related proteins are involved in celiac disease-associated tissue damage. Mol Med. 2010;16:199–209.
  • Virta LJ, Kaukinen K, Collin P. Incidence and prevalence of diagnosed coeliac disease in Finland: results of effective case finding in adults. Scand J Gastroenterol. 2009;44:933–938.
  • Evans KE, Malloy AR, Gorard DA. Changing patterns of coeliac serology requests. Aliment Pharmacol Ther. 2009;29:1137–1142.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.