#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Diagnostic pitfalls of celiac disease


Authors: Iva Hoffmanová 1;  Daniel Sánchez 2;  Helena Tlaskalová Hogenová 2
Authors‘ workplace: II. interní klinika 3. LF UK a FN Královské Vinohrady, Praha 1;  Laboratoř buněčné a molekulární imunologie Mikrobiologického ústavu AV ČR, v. v. i., Praha 2
Published in: Vnitř Lék 2019; 65(1): 24-29
Category:

Overview

Celiac disease is a very common autoimmune disorder caused by the ingestion of dietary gluten products in genetically susceptible persons. Its global prevalence is estimated around 1 %. However, the most cases are not diagnosed. Clinical presentation is widely variable with the involvement of various human systems. Besides a clinical picture (that is often non characteristic), the diagnosis is based on positivity of serological testing (tissue transglutaminase autoantibodies) and histological evaluation of small intestinal mucosa. The article presents a rational diagnostic approach to celiac disease.

Key words:

celiac disease – Marsh classification – tissue transglutaminase autoantibodies – villous atrophy


Sources
  1. Frič P, Zavoral M, Dvořáková T. Gluten induced diseases. Vnitř Lék 2013; 59(5): 376–382.
  2. Věstník Ministerstva zdravotnictví České republiky. Ročník 2011, částka 3. Strana 51–54. Vydáno 28. února 2011. Dostupné z WWW: <https://www.mzcr.cz/Legislativa/dokumenty/vestnik-c_4741_2162_11.html>.
  3. Chou R, Bougatsos C, Blazina I et al. Screening for Celiac Disease: Evidence Report and Systematic Review for the US Preventive Services Task Force. JAMA 2017; 317(12): 1258–1268. Dostupné z DOI: <http://dx.doi.org/10.1001/jama.2016.10395>.
  4. Parzanese I, Qehajaj D, Patrinicola F et al. Celiac disease: From pathophysiology to treatment. World J Gastrointest Pathophysiol 2017; 8(2): 27–38. Dostupné z DOI: <http://dx.doi.org/10.4291/wjgp.v8.i2.2>.
  5. Frič P, Keil R. Celiakie pro praxi. Med Praxi 2011; 8(9): 354–359.
  6. Downey L, Houten R, Murch S et al. Recognition, assessment, and management of coeliac disease: summary of updated NICE guidance. BMJ 2015; 351: h4513. Dostupné z DOI: <http://dx.doi.org/10.1136/bmj.h4513>.
  7. Husby S, Koletzko S, Korponay-Szabo IR et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr 2012; 54(1): 136–160. Dostupné z DOI: <http://dx.doi.org/10.1097/MPG.0b013e31821a23d0>. Erratum in J Pediatr Gastroenterol Nutr 2012; 54(4): 572.
  8. Leffler D, Schuppan D, Pallav K et al. Kinetics of the histological, serological and symptomatic responses to gluten challenge in adults with coeliac disease. Gut 2013; 62(7): 996–1004. Dostupné z DOI: <http://dx.doi.org/10.1136/gutjnl-2012–302196>.
  9. Rubio-Tapia A, Hill ID, Kelly CP et al. ACG clinical guidelines: diagnosis and management of celiac disease. Am J Gastroenterol 2013; 108: 656–676; quiz 677. Dostupné z DOI: <http://dx.doi.org/10.1038/ajg.2013.79>.
  10. Sarna VK, Lundin, Knut E A et al. HLA-DQ-Gluten Tetramer Blood Test Accurately Identifies Patients With and Without Celiac Disease in Absence of Gluten Consumption. Gastroenterology 2018; 154(4): 886–896.e6. Dostupné z DOI: <http://dx.doi.org/10.1053/j.gastro.2017.11.006>.
  11. Sarna VK, Skodje GI, Reims HM et al. HLA-DQ: gluten tetramer test in blood gives better detection of coeliac patients than biopsy after 14-day gluten challenge. Gut 2018; 67(9): 1606–1613. Dostupné z DOI: <http:///dx.doi.org/10.1136/gutjnl-2017–314461>.
  12. Kocna P, Vaníčková Z, Perušičová J et al. Tissue transglutaminase-serology markers for coeliac disease. Clin Chem Lab Med 2002; 40(5): 485–492. Dostupné z DOI: <http://dx.doi.org/10.1515/CCLM.2002.084>.
  13. Nevoral J, Kotalová R, Hradský O et al. Symptom positivity is essential for omitting biopsy in children with suspected celiac disease according to the new ESPGHAN guidelines. Eur J Pediatr 2014; 173(4): 497–502. Dostupné z DOI: <http://dx.doi.org/10.1007/s00431–013–2215–0>.
  14. Wolf J, Petroff D, Richter T et al. Validation of Antibody-Based Strategies for Diagnosis of Pediatric Celiac Disease Without Biopsy. Gastroenterology 2017; 153(2): 410–419. Dostupné z DOI: <http://dx.doi.org/10.1053/j.gastro.2017.04.023>.
  15. Tortora R, Imperatore N, Capone P et al. The presence of anti-endomysial antibodies and the level of anti-tissue transglutaminases can be used to diagnose adult coeliac disease without duodenal biopsy. Aliment Pharmacol Ther 2014; 40(10): 1223–1229. Dostupné z DOI: <http://dx.doi.org/10.1111/apt.12970>.
  16. Holmes GKT, Forsyth JM, Knowles S et al. Coeliac disease: further evidence that biopsy is not always necessary for diagnosis. Eur J Gastroenterol Hepatol 2017; 29(6): 640–645. Dostupné z DOI: <http://dx.doi.org/10.1097/MEG.0000000000000841>.
  17. Zanini B, Magni A, Caselani F et al. High tissue-transglutaminase antibody level predicts small intestinal villous atrophy in adult patients at high risk of celiac disease. Dig Liver Dis 2012; 44(4): 280–285. Dostupné z DOI: <http://dx.doi.org/10.1016/j.dld.2011.10.013>.
  18. Wakim-Fleming J, Pagadala MR, Lemyre MS et al. Diagnosis of celiac disease in adults based on serology test results, without small-bowel biopsy. Clin Gastroenterol Hepatol 2013; 11(5): 511–516. Dostupné z DOI: <http://dx.doi.org/10.1016/j.cgh.2012.12.015>.
  19. Leffler DA, Schuppan D. Update on serologic testing in celiac disease. Am J Gastroenterol 2010; 105(12): 2520–2524. Dostupné z DOI: <http://dx.doi.org/10.1038/ajg.2010.276>.
  20. Kurien M, Mooney PD, Sanders DS. Editorial: is a histological diagnosis mandatory for adult patients with suspected coeliac disease? Aliment Pharmacol Ther 2015; 41(1): 146–147. Dostupné z DOI: <http://dx.doi.org/10.1111/apt.13002>.
  21. Mills JR, Murray JA. Contemporary celiac disease diagnosis: is a biopsy avoidable? Curr Opin Gastroenterol 2016; 32(2): 80–85. Dostupné z DOI: <http://dx.doi.org/10.1097/MOG.0000000000000245>.
  22. Taavela J, Popp A, Korponay-Szabo IR et al. A Prospective Study on the Usefulness of Duodenal Bulb Biopsies in Celiac Disease Diagnosis in Children: Urging Caution. Am J Gastroenterol 2016; 111(1): 124–133. Dostupné z DOI: <http://dx.doi.org/10.1038/ajg.2015.387>.
  23. Lau MS, Sanders DS. Optimizing the diagnosis of celiac disease. Curr Opin Gastroenterol 2017; 33(3): 173–180. Dostupné z DOI: <http://dx.doi.org/10.1097/MOG.0000000000000343>.
  24. Iovino P, Pascariello A, Russo I et al. Difficult diagnosis of celiac disease: diagnostic accuracy and utility of chromo-zoom endoscopy. Gastrointest Endosc 2013; 77(2): 233–240. Dostupné z DOI: <http://dx.doi.org/10.1016/j.gie.2012.09.036>.
  25. Ianiro G, Gasbarrini A, Cammarota G. Endoscopic tools for the diagnosis and evaluation of celiac disease. World J Gastroenterol. 2013; 19(46): 8562–8570. Dostupné z DOI: <http://dx.doi.org/10.3748/wjg.v19.i46.8562>.
  26. Ianiro G, Bibbo S, Pecere S et al. Current technologies for the endoscopic assessment of duodenal villous pattern in celiac disease. Comput Biol Med 2015; 65: 308–314. Dostupné z DOI: <http://dx.doi.org/10.1016/j.compbiomed.2015.04.033>.
  27. Marsh MN. Gluten, major histocompatibility complex, and the small intestine. A molecular and immunobiologic approach to the spectrum of gluten sensitivity (“celiac sprue”). Gastroenterology 1992; 102(1): 330–354.
  28. Oberhuber G, Granditsch G, Vogelsang H. The histopathology of coeliac disease: time for a standardized report scheme for pathologists. Eur J Gastroenterol Hepatol 1999; 11(10): 1185–1194.
  29. Dickson BC, Streutker CJ, Chetty R. Coeliac disease: an update for pathologists. J Clin Pathol 2006; 59(10): 1008–1016. Dostupné z DOI: <http://dx.doi.org/10.1136/jcp.2005.035345>.
  30. Hayat M, Cairns A, Dixon MF et al. Quantitation of intraepithelial lymphocytes in human duodenum: what is normal? J Clin Pathol 2002; 55(5): 393–394.
  31. Jarvinen TT, Collin P, Rasmussen M et al. Villous tip intraepithelial lymphocytes as markers of early-stage coeliac disease. Scand J Gastroenterol 2004; 39(5): 428–433.
  32. Korponay-Szabo IR, Troncone R, Discepolo V. Adaptive diagnosis of coeliac disease. Best Pract Res Clin Gastroenterol 2015; 29(3): 381–398. Dostupné z DOI: <http://dx.doi.org/10.1016/j.bpg.2015.05.003>.
  33. Martins C, Teixeira C, Ribeiro S et al. Seronegative Intestinal Villous Atrophy: A Diagnostic Challenge. Case Rep Gastrointest Med 2016; 2016: 6392028. Dostupné z DOI: <http://dx.doi.org/10.1155/2016/6392028>.
  34. Kamboj AK, Oxentenko AS. Clinical and Histologic Mimickers of Celiac Disease. Clin Transl Gastroenterol 2017; 8(8): e114. Dostupné z DOI: <http://dx.doi.org/10.1038/ctg.2017.41>.
  35. Mubarak A, Wolters VM, Houwen RH et al. Immunohistochemical CD3 staining detects additional patients with celiac disease. World J Gastroenterol 2015; 21(24): 7553–7557. Dostupné z DOI: <http://dx.doi.org/10.3748/wjg.v21.i24.7553>.
  36. Hudacko R, Kathy ZX, Yantiss RK. Immunohistochemical stains for CD3 and CD8 do not improve detection of gluten-sensitive enteropathy in duodenal biopsies. Mod Pathol 2013; 26(9): 1241–1215. Dostupné z DOI: <http://dx.doi.org/10.1038/modpathol.2013.57>.
  37. Elli L, Zini E, Tomba C et al. Histological evaluation of duodenal biopsies from coeliac patients: the need for different grading criteria during follow-up. BMC Gastroenterol 2015; 15: 133. Dostupné z DOI: <http://dx.doi.org/10.1186/s12876–015–0361–8>.
  38. Corazza GR, Villanacci V, Zambelli C et al. Comparison of the interobserver reproducibility with different histologic criteria used in celiac disease. Clin Gastroenterol Hepatol 2007; 5(7): 838–843. Dostupné z DOI: <http://dx.doi.org/10.1016/j.cgh.2007.03.019>.
  39. Wolters VM, Wijmenga C. Genetic background of celiac disease and its clinical implications. Am J Gastroenterol 2008; 103(1): 190–195. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1572–0241.2007.01471.x>.
  40. Dieli-Crimi R, Cenit MC, Nunez C. The genetics of celiac disease: A comprehensive review of clinical implications. J Autoimmun 2015; 64: 26–41. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaut.2015.07.003>.
  41. Catassi C, Fasano A. Celiac disease diagnosis: simple rules are better than complicated algorithms. Am J Med 2010; 123(8): 691–693. Dostupné z DOI: <http://dx.doi.org/10.1016/j.amjmed.2010.02.019>.
  42. Bodd M, Tollefsen S, Bergseng E et al. Evidence that HLA-DQ9 confers risk to celiac disease by presence of DQ9-restricted gluten-specific T cells. Hum Immunol 2012; 73(4): 376–381. Dostupné z DOI: <http://dx.doi.org/10.1016/j.humimm.2012.01.016>.
  43. Ricano-Ponce I, Wijmenga C, Gutierrez-Achury J. Genetics of celiac disease. Best Pract Res Clin Gastroenterol 2015; 29(3): 399–412. Dostupné z DOI: <http://dx.doi.org/10.1016/j.bpg.2015.04.004>.
  44. Villanacci V, Ceppa P, Tavani E et al. Coeliac disease: the histology report. Dig Liver Dis 2011; 43(Suppl 4): S385-S395. Dostupné z DOI: <http://dx.doi.org/10.1016/S1590–8658(11)60594-X>.
  45. Ierardi E, Losurdo G, Piscitelli D et al. Seronegative celiac disease: where is the specific setting? Gastroenterol Hepatol Bed Bench 2015; 8(2): 110–116.
  46. Volta U, Caio G, Boschetti E et al. Seronegative celiac disease: Shedding light on an obscure clinical entity. Dig Liver Dis 2016; 48(9): 1018–1022. Dostupné z DOI: <http://dx.doi.org/10.1016/j.dld.2016.05.024>.
  47. Aziz I, Peerally MF, Barnes J et al. The clinical and phenotypical assessment of seronegative villous atrophy; a prospective UK centre experience evaluating 200 adult cases over a 15-year period (2000–2015). Gut 2017; 66(9): 1563–1572. Dostupné z DOI: <http://dx.doi.org/10.1136/gutjnl-2016–312271>.
  48. Volta U, Caio G, Giancola F et al. Features and Progression of Potential Celiac Disease in Adults. Clin Gastroenterol Hepatol 2016; 14(5): 686–693. Dostupné z DOI: <http://dx.doi.org/10.1016/j.cgh.2015.10.024>.
  49. Ho-Yen C, Chang F, van der Walt J et al. Recent advances in refractory coeliac disease: a review. Histopathology 2009; 54(7): 783–795. Dostupné z DOI: <http://dx.doi.org/10.1111/j.1365–2559.2008.03112.x>.
  50. Smedby KE, Akerman M, Hildebrand H et al. Malignant lymphomas in coeliac disease: evidence of increased risks for lymphoma types other than enteropathy-type T cell lymphoma. Gut 2005; 54(1): 54–59. Dostupné z DOI: <http://dx.doi.org/10.1136/gut.2003.032094>.
  51. Richir M, Songun I, Wientjes C et al. Small Bowel Adenocarcinoma in a Patient with Coeliac Disease: Case Report and Review of the Literature. Case Reports Gastroenterol 2010; 4(3): 416–420. Dostupné z DOI: <http://dx.doi.org/10.1159/000313547>.
  52. Ozgor B, Selimoglu MA. Coeliac disease and reproductive disorders. Scand J Gastroenterol 2010; 45(4): 395–402. Dostupné z DOI: <http://dx.doi.org/10.3109/00365520903508902>.
  53. Sapone A, Bai JC, Ciacci C et al. Spectrum of gluten-related disorders: consensus on new nomenclature and classification. BMC Med 2012; 10: 13. Dostupné z DOI: <http://dx.doi.org/10.1186/1741–7015–10–13>.
Labels
Diabetology Endocrinology Internal medicine
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#