Diagnosing celiac disease: a review of diagnostic modalities of celiac disease

Arslaan Javaeed


Celiac disease is known as gluten-sensitive enteropathy. By enteropathy it simply means it is pathology of the gastrointestinal tract and that is why diarrhea (a common GI symptom) is usually one of the commonest presentations of celiac disease. So, it is safe to define celiac disease as an autoimmune disorder that mainly afflicts the small intestine. By autoimmune authors are referring to a disorder in which the body’s immune system works against the body itself. It is a chronic disorder where the sufferer is not able to tolerate gliadin, which is the alcohol soluble component of gluten. Gluten of course is a protein that is usually found in common foods like barley and wheat. Celiac disease which can also be regarded as celiac sprue has a genetic and immunological aspect to its etiology both of which would need to be considered when screening anyone for celiac disease.


Celiac disease, Diagnosis, Screening

Full Text:



Fasano A. Clinical presentation of celiac disease in the pediatric population. Gastroenterology. 2005 Apr 1;128(4):S68-73.

Green PH, Lebwohl B, Greywoode R. Celiac disease. J Allergy Clin Immunol. 2015:135(5):1099-106.

Kagnoff MF. Celiac disease: pathogenesis of a model immunogenetic disease. J Clin Invest. 2007;117(1):41-9.

Rubio-Tapia A, Kyle RA, Kaplan EL, Johnson DR, Page W, Erdtmann F, et al. Increased prevalence and mortality in undiagnosed celiac disease. Gastroenterology. 2009 Jul 1;137(1):88-93.

Fasano A, Catassi C. Celiac disease. New England Journal of Medicine. 2012 Dec 20;367(25):2419-26.

Rostami K, Malekzadeh R, Shahbazkhani B, Akbari MR, Catassi C. Coeliac disease in Middle Eastern countries: a challenge for the evolutionary history of this complex disorder?. Digestive and liver disease. 2004 Oct 1;36(10):694-7.

Rashtak S, Murray JA. Celiac disease in the elderly. Gastroenterology Clinics. 2009 Sep 1;38(3):433-46.

Rubio-Tapia A, Ludvigsson JF, Brantner TL, Murray JA, Everhart JE. The prevalence of celiac disease in the United States. The Ame J Gastroenterol. 2012 Oct;107(10):1538.

Ludvigsson JF, Montgomery SM, Ekbom A, Brandt L, Granath F. Small-intestinal histopathology and mortality risk in celiac disease. JAMA. 2009 Sep 16;302(11):1171-8.

Ludvigsson JF, Leffler DA, Bai JC, Biagi F, Fasano A, Green PH, et al. The Oslo definitions for coeliac disease and related terms. Gut. 2012 Jan 1:gutjnl-2011.

Myléus A, Ivarsson A, Webb C, Danielsson L, Hernell O, Högberg L, et al. Celiac disease revealed in 3% of Swedish 12-year-olds born during an epidemic. J Ped Gastroenterol Nutrit. 2009 Aug 1;49(2):170-6.

Dubé C, Rostom A, Sy R, Cranney A, Saloojee N, Garritty C, et al. The prevalence of celiac disease in average-risk and at-risk Western European populations: a systematic review. Gastroenterology. 2005 Apr 1;128(4):S57-67.

Katz KD, Rashtak S, Lahr BD, Melton III LJ, Krause PK, Maggi K, et al. Screening for celiac disease in a North American population: sequential serology and gastrointestinal symptoms. Ame J Gastroenterol. 2011 Jul;106(7):1333.

Mardini HE, Westgate P, Grigorian AY. Racial differences in the prevalence of celiac disease in the US population: National Health and Nutrition Examination Survey (NHANES) 2009-2012. Dig Dis Sci. 2015;60:1738-42.

West J, Fleming KM, Tata LJ, Card TR, Crooks CJ. Incidence and prevalence of celiac disease and dermatitis herpetiformis in the UK over two decades: population-based study. Am J Gastroenterol. 2014;109:757-68.

Vilppula A, Collin P, Mäki M, Valve R, Luostarinen M, Krekelä I, et al. Undetected coeliac disease in the elderly: a biopsy-proven population-based study. Digestive and Liver Disease. 2008 Oct 1;40(10):809-13.

Yuan J, Gao J, Li X, Liu F, Wijmenga C, Chen H, et al. The tip of the celiac iceberg in China: a systematic review and meta-analysis. PLoS One. 2013 Dec 4;8(12):e81151.

Makharia GK, Verma AK, Amarchand R, Bhatnagar S, Das P, Goswami A, et al. Prevalence of celiac disease in the northern part of India: a community based study. J Gastroenterol Hepatol. 2011 May;26(5):894-900.

Cataldo F, Lio D, Simpore J, Musumeci S. Consumption of wheat foodstuffs not a risk for celiac disease occurrence in Burkina Faso. J Ped Gastroenterol Nutritio. 2002 Aug 1;35(2):233-4.

Murray JA, Van Dyke C, Plevak MF, Dierkhising RA, Zinsmeister AR, Melton III LJ. Trends in the identification and clinical features of celiac disease in a North American community, 1950-2001. Clinical Gastroenterology and Hepatology. 2003 Jan 1;1(1):19-27.

Ludvigsson JF, Rubio-Tapia A, Van Dyke CT, Melton III LJ, Zinsmeister AR, Lahr BD, et al. Increasing incidence of celiac disease in a North American population. Ame J Gastroenterol. 2013 May;108(5):818.

Catassi C, Ratsch IM, Gandolfi L, Pratesi R, Fabiani E, El Asmar R, et al. Why is coeliac disease endemic in the people of the Sahara?. The Lancet. 1999 Aug 21;354(9179):647-8.

Ivarsson A, Hernell O, Stenlund H, Persson LÅ. Breast-feeding protects against celiac disease. The Ame J Cli Nutri. 2002 May 1;75(5):914-21.

Ivarsson A, Persson LÅ, Nyström L, Ascher H, Cavell B, Danielsson L, et al. Epidemic of coeliac disease in Swedish children. Acta paediatrica. 2000 Feb;89(2):165-71.

Roberts SE, Williams JG, Meddings D, Davidson R, Goldacre MJ. Perinatal risk factors and coeliac disease in children and young adults: a record linkage study. Alimentary pharmacology & therapeutics. 2009 Jan;29(2):222-31.

Welander A, Tjernberg AR, Montgomery SM, Ludvigsson J, Ludvigsson JF. Infectious disease and risk of later celiac disease in childhood. Pediatrics. 2010 Feb 16:peds-2009.

Vriezinga SL, Auricchio R, Bravi E, Castillejo G, Chmielewska A, Crespo Escobar P, et al. Randomized feeding intervention in infants at high risk for celiac disease. New England Journal of Medicine. 2014 Oct 2;371(14):1304-15.

Kagnoff MF, Paterson YJ, Kumar PJ, Kasarda DD, Carbone FR, Unsworth DJ, et al. Evidence for the role of a human intestinal adenovirus in the pathogenesis of coeliac disease. Gut. 1987 Aug 1;28(8):995-1001.

Stene LC, Honeyman MC, Hoffenberg EJ, Haas JE, Sokol RJ, Emery L, et al. Rotavirus infection frequency and risk of celiac disease autoimmunity in early childhood: a longitudinal study. Ame J Gastroenterol. 2006 Oct;101(10):2333.

Riddle MS, Murray JA, Porter CK. The incidence and risk of celiac disease in a healthy US adult population. Ame J Gastroenterol. 2012 Aug;107(8):1248.

Decker E, Hornef M, Stockinger S. Cesarean delivery is associated with celiac disease but not inflammatory bowel disease in children. Gut microbes. 2011 Mar 28;2(2):91-8.

Lebwohl B, Blaser MJ, Ludvigsson JF, Green PH, Rundle A, Sonnenberg A, et al. Decreased risk of celiac disease in patients with Helicobacter pylori colonization. Ame J Epidemiol. 2013 Oct 11;178(12):1721-30.

Lebwohl B, Spechler SJ, Wang TC, Green PH, Ludvigsson JF. Use of proton pump inhibitors and subsequent risk of celiac disease. Digestive and Liver Disease. 2014 Jan 1;46(1):36-40.

Mårild K, Stephansson O, Montgomery S, Murray JA, Ludvigsson JF. Pregnancy outcome and risk of celiac disease in offspring: a nationwide case-control study. Gastroenterology. 2012 Jan 1;142(1):39-45.

Austin AS, Logan RF, Thomason K, Holmes GK. Cigarette smoking and adult coeliac disease. Sca J Gastroenterol. 2002 Jan 1;37(8):978-82.

Ludvigsson JF, Montgomery SM, Ekbom A. Smoking and celiac disease: a population-based cohort study. Clinical Gastroenterology and Hepatology. 2005 Sep 1;3(9):869-74.

Shan L, Molberg Ø, Parrot I, Hausch F, Filiz F, Gray GM, et al. Structural basis for gluten intolerance in celiac sprue. Science. 2002 Sep 27;297(5590):2275-9.

Lammers KM, Lu R, Brownley J, Lu B, Gerard C, Thomas K, et al. Gliadin induces an increase in intestinal permeability and zonulin release by binding to the chemokine receptor CXCR3. Gastroenterology. 2008 Jul 1;135(1):194-204.

Matysiak-Budnik T, Moura IC, Arcos-Fajardo M, Lebreton C, Ménard S, Candalh C, et al. Secretory IgA mediates retrotranscytosis of intact gliadin peptides via the transferrin receptor in celiac disease. J Exp Medici. 2008 Jan 21;205(1):143-54.

Schumann M, Richter JF, Wedell I, Moos V, Zimmermann-Kordmann M, Schneider T, et al. Mechanisms of epithelial translocation of the α2-gliadin-33mer in celiac sprue. Gut. 2008 Feb 27.

Fina D, Sarra M, Caruso R, Blanco GD, Pallone F, MacDonald TT, Monteleone G. Interleukin-21 contributes to the mucosal T helper cell type 1 response in celiac disease. Gut. 2007 Oct 26.

Grose RH, Thompson FM, Cummins AG. Deficiency of 6B11+ invariant NK T-cells in celiac disease. Digestive diseases and sciences. 2008 Jul 1;53(7):1846-51.

Murray JA, Van Dyke C, Plevak MF, Dierkhising RA, Zinsmeister AR, Melton III LJ. Trends in the identification and clinical features of celiac disease in a North American community, 1950-2001. Clinical Gastroenterology and Hepatology. 2003 Jan 1;1(1):19-27.

Sategna-Guidetti C, Pulitano R, Grosso S, Ferfoglia G. Serum IgA antiendomysium antibody titers as a marker of intestinal involvement and diet compliance in adult celiac sprue. Journal of clinical gastroenterology. 1993 Sep;17(2):123-7.

Chow MA, Lebwohl B, Reilly NR, Green PH. Immunoglobulin A deficiency in celiac disease. J Clin Gastroenterol. 2012 Nov 1;46(10):850-4.

Collin P, Kaukinen K, Vogelsang H, Korponay-Szabó I, Sommer R, Schreier E, et al. Antiendomysial and antihuman recombinant tissue transglutaminase antibodies in the diagnosis of coeliac disease: a biopsy-proven European multicentre study. Eur J Gastroenterol Hepatol. 2005 Jan 1;17(1):85-91.

Johnson TC, Diamond B, Memeo L, Negulescu H, Hovhanissyan Z, Verkarre V, et al. Relationship of HLA-DQ8 and severity of celiac disease: comparison of New York and Parisian cohorts. Cli Gastroenterol Hepatol. 2004 Oct 1;2(10):888-94.

Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA. ACG clinical guidelines: diagnosis and management of celiac disease. Ame J Gastroenterol. 2013 May;108(5):656.

Presutti RJ, Cangemi JR, Cassidy HD, Hill DA. Celiac disease. American family physician. 2007 Dec 15;76(12).

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 Jan 1;102(1):330-54.