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Celiac Disease: Diagnosis

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Celiac Disease

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1326))

Abstract

Historically the diagnosis of celiac disease has relied upon clinical, serological, and histological evidence. In recent years the use of sensitive serological methods has meant an increase in the diagnosis of celiac disease. The heterogeneous nature of the disorder presents a challenge in the study and diagnosis of the disease with patients varying from subclinical or latent disease to patients with overt symptoms. Furthermore the related gluten-sensitive disease dermatitis herpetiformis, while distinct in some respects, shares clinical and serological features with celiac disease. Here we summarize current best practice for the diagnosis of celiac disease and briefly discuss newer approaches. The advent of next-generation assays for diagnosis and newer clinical protocols may result in more sensitive screening and ultimately the possible replacement of the intestinal biopsy as the gold standard for celiac disease diagnosis.

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References

  1. Rashtak S, Murray JA (2009) Celiac disease in the elderly. Gastroenterol Clin North Am 38(3):433–446

    Article  PubMed Central  PubMed  Google Scholar 

  2. Husby S, Koletzko S, Korponay-Szabo IR, Mearin ML, Phillips A, Shamir R, Troncone R, Giersiepen K, Branski D, Catassi C, Lelgeman M, Maki M, Ribes-Koninckx C, Ventura A, Zimmer KP (2012) European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr 54(1):136–160

    Article  CAS  PubMed  Google Scholar 

  3. Kemppainen T, Uusitupa M, Janatuinen E, Jarvinen R, Julkunen R, Pikkarainen P (1995) Intakes of nutrients and nutritional status in coeliac patients. Scand J Gastroenterol 30(6):575–579

    Article  CAS  PubMed  Google Scholar 

  4. Hernandez L, Green PH (2006) Extraintestinal manifestations of celiac disease. Curr Gastroenterol Rep 8(5):383–389

    Article  PubMed  Google Scholar 

  5. Bolotin D, Petronic-Rosic V (2011) Dermatitis herpetiformis. Part I. Epidemiology, pathogenesis, and clinical presentation. J Am Acad Dermatol 64(6):1017–1024, quiz 1025-1016

    Article  PubMed  Google Scholar 

  6. Sollid LM, Thorsby E (1993) HLA susceptibility genes in celiac disease: genetic mapping and role in pathogenesis. Gastroenterology 105(3):910–922

    CAS  PubMed  Google Scholar 

  7. Hunt KA, Zhernakova A, Turner G et al (2008) Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet 40(4):395–402

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  8. Tjon JM, van Bergen J, Koning F (2010) Celiac disease: how complicated can it get? Immunogenetics 62(10):641–651

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  9. Kneepkens CM, von Blomberg BM (2012) Clinical practice: coeliac disease. Eur J Pediatr 171(7):1011–1021

    Article  PubMed Central  PubMed  Google Scholar 

  10. Ascher H, Hahn-Zoric M, Hanson LA, Kilander AF, Nilsson LA, Tlaskalova H (1996) Value of serologic markers for clinical diagnosis and population studies of coeliac disease. Scand J Gastroenterol 31(1):61–67

    Article  CAS  PubMed  Google Scholar 

  11. Centre for Clinical Practice at NICE (UK) (2009) Coeliac disease: recognition and assessment of coeliac disease. National Institute for Health and Clinical Excellence (UK), London, UK

    Google Scholar 

  12. Chorzelski TP, Beutner EH, Sulej J, Tchorzewska H, Jablonska S, Kumar V, Kapuscinska A (1984) IgA anti-endomysium antibody. A new immunological marker of dermatitis herpetiformis and coeliac disease. Br J Dermatol 111(4):395–402

    Article  CAS  PubMed  Google Scholar 

  13. Salmi TT, Collin P, Korponay-Szabo IR, Laurila K, Partanen J, Huhtala H, Kiraly R, Lorand L, Reunala T, Maki M, Kaukinen K (2006) Endomysial antibody-negative coeliac disease: clinical characteristics and intestinal autoantibody deposits. Gut 55:1746–1753

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  14. Feighery C (1999) Fortnightly review: coeliac disease. Br Med J 319(7204):236–239

    Article  CAS  Google Scholar 

  15. Lewis NR, Scott BB (2006) 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 24(1):47–54

    Article  CAS  PubMed  Google Scholar 

  16. Dieterich W, Ehnis T, Bauer M, Donner P, Volta U, Riecken EO, Schuppan D (1997) Identification of tissue transglutaminase as the autoantigen of celiac disease. Nat Med 3(7):797–801

    Article  CAS  PubMed  Google Scholar 

  17. Brusco G, Muzi P, Ciccocioppo R, Biagi F, Cifone MG, Corazza GR (1999) Transglutaminase and coeliac disease: endomysial reactivity and small bowel expression. Clin Exp Immunol 118(3):371–375

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  18. Fesus L, Piacentini M (2002) Transglutaminase 2: an enigmatic enzyme with diverse functions. Trends Biochem Sci 27(10):534–539

    Article  CAS  PubMed  Google Scholar 

  19. Koning F, Gilissen L, Wijmenga C (2005) Gluten: a two-edged sword. Immunopathogenesis of celiac disease. Springer Semin Immunopathol 27(2):217–232

    Article  CAS  PubMed  Google Scholar 

  20. Caputo I, Barone MV, Martucciello S, Lepretti M, Esposito C (2009) Tissue transglutaminase in celiac disease: role of autoantibodies. Amino Acids 36(4):693–699

    Article  CAS  PubMed  Google Scholar 

  21. Sollid LM, Molberg O, McAdam S, Lundin KE (1997) Autoantibodies in coeliac disease: tissue transglutaminase–guilt by association? Gut 41(6):851–852

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  22. Schuppan D, Hahn EG (2001) IgA anti-tissue transglutaminase: setting the stage for coeliac disease screening. Eur J Gastroenterol Hepatol 13(6):635–637

    Article  CAS  PubMed  Google Scholar 

  23. Nachman F, Sugai E, Vazquez H, Gonzalez A, Andrenacci P, Niveloni S, Mazure R, Smecuol E, Moreno ML, Hwang HJ, Sanchez MI, Maurino E, Bai JC (2011) Serological tests for celiac disease as indicators of long-term compliance with the gluten-free diet. Eur J Gastroenterol Hepatol 23(6):473–480

    PubMed  Google Scholar 

  24. Amarri S, Alvisi P, De Giorgio R, Gelli MC, Cicola R, Tovoli F, Sassatelli R, Caio G, Volta U (2013) Antibodies to deamidated gliadin peptides: an accurate predictor of coeliac disease in infancy. J Clin Immunol 33(5):1027–1030

    Article  CAS  PubMed  Google Scholar 

  25. Bizzaro N, Tozzoli R, Villalta D, Fabris M, Tonutti E (2012) Cutting-edge issues in celiac disease and in gluten intolerance. Clin Rev Allergy Immunol 42(3):279–287

    Article  CAS  PubMed  Google Scholar 

  26. Bottaro G, Cataldo F, Rotolo N, Spina M, Corazza GR (1999) The clinical pattern of subclinical/silent celiac disease: an analysis on 1026 consecutive cases. Am J Gastroenterol 94(3):691–696

    CAS  PubMed  Google Scholar 

  27. Cataldo F, Lio D, Marino V, Picarelli A, Ventura A, Corazza GR (2000) IgG(1) antiendomysium and IgG antitissue transglutaminase (anti-tTG) antibodies in coeliac patients with selective IgA deficiency. Working Groups on Celiac Disease of SIGEP and Club del Tenue. Gut 47(3):366–369

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  28. van der Meer JB (1969) Granular deposits of immunoglobulins in the skin of patients with dermatitis herpetiformis. An immunofluorescent study. Br J Dermatol 81(7):493–503

    Article  PubMed  Google Scholar 

  29. Nakajima K (2012) Recent advances in dermatitis herpetiformis. Clin Dev Immunol 2012:914162

    Article  PubMed Central  PubMed  Google Scholar 

  30. Borroni G, Biagi F, Ciocca O, Vassallo C, Carugno A, Cananzi R, Campanella J, Bianchi PI, Brazzelli V, Corazza GR (2013) IgA anti-epidermal transglutaminase autoantibodies: a sensible and sensitive marker for diagnosis of dermatitis herpetiformis in adult patients. J Eur Acad Dermatol Venereol 27(7):836–841

    Article  CAS  PubMed  Google Scholar 

  31. Green PH, Rostami K, Marsh MN (2005) Diagnosis of coeliac disease. Best Pract Res Clin Gastroenterol 19(3):389–400

    Article  PubMed  Google Scholar 

  32. Rodrigues AF, Jenkins HR (2008) Investigation and management of coeliac disease. Arch Dis Child 93(3):251–254

    Article  CAS  PubMed  Google Scholar 

  33. Walker-Smith JA, Guandalini S, Schmitz J, Shmerling D, Visakorpi J (1990) Revised criteria for diagnosis of coeliac disease. Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition. Arch Dis Child 65(8):909–911

    Article  Google Scholar 

  34. Collin P, Kaukinen K, Vogelsang H et al (2005) Antiendomysial and antihuman recombinant tissue transglutaminase antibodies in the diagnosis of coeliac disease: a biopsy-proven European multicentre study. Eur J Gastroenterol Hepatol 17(1):85–91

    Article  CAS  PubMed  Google Scholar 

  35. Vivas S, Ruiz de Morales JG, Riestra S et al (2009) Duodenal biopsy may be avoided when high transglutaminase antibody titers are present. World J Gastroenterol 15(38):4775–4780

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  36. Fernandez-Banares F, Alsina M, Modolell I et al (2012) Are positive serum-IgA-tissue-transglutaminase antibodies enough to diagnose coeliac disease without a small bowel biopsy? Post-test probability of coeliac disease. J Crohns Colitis 6(8):861–866

    Article  PubMed  Google Scholar 

  37. Carroccio A, Brusca I, Iacono G et al (2007) IgA anti-actin antibodies ELISA in coeliac disease: a multicentre study. Dig Liver Dis 39(9):818–823

    Article  CAS  PubMed  Google Scholar 

  38. Droste A, Sorg C, Hogger P (1999) Shedding of CD163, a novel regulatory mechanism for a member of the scavenger receptor cysteine-rich family. Biochem Biophys Res Commun 256(1):110–113

    Article  CAS  PubMed  Google Scholar 

  39. Daly A, Walsh C, Feighery C, O’Shea U, Jackson J, Whelan A (2006) Serum levels of soluble CD163 correlate with the inflammatory process in coeliac disease. Aliment Pharmacol Ther 24(3):553–559

    Article  CAS  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. School of Biological Sciences, Dublin Institute of Technology, Kevin St., Dublin, 8, Ireland

    Greg Byrne Ph.D.

  2. Immunology Department, Trinity College, Dublin, Ireland

    Conleth F. Feighery M.D., F.R.C.Path.

  3. Immunology Department, St. James’s Hospital, Dublin, Ireland

    Conleth F. Feighery M.D., F.R.C.Path.

Authors
  1. Greg Byrne Ph.D.
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  2. Conleth F. Feighery M.D., F.R.C.Path.
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Corresponding author

Correspondence to Greg Byrne Ph.D. .

Editor information

Editors and Affiliations

  1. Trinity Centre for Health Sciences, Trinity College Dublin Trinity Centre for Health Sciences, Dublin, Ireland

    Anthony W. Ryan

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© 2015 Springer Science+Business Media New York

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Byrne, G., Feighery, C.F. (2015). Celiac Disease: Diagnosis. In: Ryan, A. (eds) Celiac Disease. Methods in Molecular Biology, vol 1326. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-2839-2_2

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  • DOI: https://doi.org/10.1007/978-1-4939-2839-2_2

  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-2838-5

  • Online ISBN: 978-1-4939-2839-2

  • eBook Packages: Springer Protocols

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