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Diagnosis of celiac disease in groups of genetic risk: modern view on the problem

[Reviews]
Leonid Klimov; Marina Stoyan; Victoria Kuryaninova; Elena Gerasimenko; Vyacheslav Kashnikov; Roza Atanesyan; Alla Ivanova; Lyubov Kochneva;

Celiac disease is one of the multisystem autoimmune diseases that is being intensively studied due to the very widespread prevalence in almost all regions of the world and extremely adverse effects on the health and quality of life of patients. Timely detection of celiac disease is a problem for many physicians due to the variety of clinical manifestations, the erased, lowsymptom and atypical course of the disease. Screening of celiac disease in groups of genetic risk is recognized as one of the methods of primary prevention of autoimmune and oncological diseases.

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References:
1. Parfenov A. I., Bykova S. V., Sabelnikova E. A., Maev I. V., Baranov A. A. [et al.] All-Russian Consensus on Diagnosis and Treatment of Celiac Disease in Children and Aduits. Ter. Arkh. 2017;89(3):94-107. https://doi.org/10.17116/terarkh201789394-107
2. Barada K., Abu Daya H., Rostami K., Catassi C. Celiac disease in the developing world. Gastrointest. Endosc. Clin. N. Am. 2012;22(4):773-793. https://doi.org/10.1016/j.giec.2012.07.002
3. Belmer S. V. Epidemiology of celiac disease: facts and conclusions. Lechaschi Vrach. 2013;1:16-19.
4. Mustalahti K., Catacci C., Reunanen A., Fabiani E., Heier M. [et al.] The prevalence of celiac disease in Europe: results of a centralized, international mass screening project. Ann. Med. 2010;42(8):587-595. https://doi.org/10.3109/07853890.2010.505931
5. Ludvigsson J. F., Rubio-Tapia A., van Dyke C. T., Melton L. J. 3rd, Zinsmeister A. R. [et al.] Increasing incidence of celiac disease in a North American population. Am. J. Gastroenterol. 2013;108(5):818-824. https://doi.org/10.1038/ajg.2013.60
6. Catassi C., Gatti S., Lionetti E. World perspective and celiac disease epidemiology. Dig. Dis. 2015;33(2):141-146. https://doi.org/10.1159/000369518
7. Catassi C., Gatti S., Fasano A. The new epidemiology of celiac disease. J. Pediatr. Gastroenterol. Nutr. 2014;59 (Suppl.1):S7-9. https://doi.org/10.1097/01.mpg.0000450393.23156.59
8. Rubio-Tapia A., Ludvigsson J. F., Brantner T. L., Murray J. A., Everhart J. E. The prevalence of celiac disease in the United States. Am. J. Gastroenterol. 2012;107(10): 1538-1544. https://doi:10.1038/ajg.2012.219
9. Reilly N. R., Green P. H. Epidemiology and clinical presentations of celiac disease. Semin. Immunopathol. 2012; 34(4):473-478. https://doi.org/10.1007/s00281-012-0311-2
10. Klimov L., Stoyan M., Kuryaninova V., Eremeeva O., Kashnikov V. [et al.] Improving of the diagnosis of celiac disease in children in Stavropol territory: retrospective analysis of 17 years. Medical News of North Caucasus.
2014;9(3):237-241. https://doi.org/10.14300/mnnc.2014.09067
11. Yankina G. N., Loshkova E. V., Kondratyeva E. I., Zhelev V. A., Mikhalev E. V. Comorbidity in celiac disease. J. Pediatria. 2017;96(6):140-149. https://doi.org/10.24110/0031-403X-2017-96-6-140-149
12. Dmitrieva Yu. A., Zakharova I. N. Neurologic manifestations in coeliac disease patients. Meditsinsky sovet (Medical Council). 2017;9:93-96. https://doi.org/10.21518/2079-701X-2017-9-93-96
13. Zakharova I. N., Dmitrieva Yu. A., Dzebisova F. S. Celiac disease and associated diseases. Russian Bulletin of perinatology and pediatrics. 2014;59(3):44-49.
14. Celiac disease in children. Edited by S. V. Belmer, M. O. Revnova. M.: MedPraktika-M, 2015.
15. Green P. H., Fleischauer A. T., Bhagat G., Goyal R., Jabri
B. [et al.] Risk of malignancy in patients with celiac disease.
Am. J. Med. 2003;115(3):191-195.
16. Rubio-Tapia A., Kyle R. A., Kaplan E. L., Johnson D. R., Page W. [et al.] Increased prevalence and mortality in undiagnosed celiac disease. Gastroenterology. 2009;137(1):88-93. https://doi.org/10.1053/j.gastro.2009.03.059
17. Matysiak-Budnik T., Moura I. C., Arcos-Fajardo M., Lebreton C., Ménard S. [et al.] Secretory IgA mediates retrotranscytosis of intact gliadin peptides via the transferrin receptor in celiac disease. J. Exp. Med. 2008;205(1): 143-154. https://doi.org/10.1084/jem.20071204
18. Lagerqvist C., Dahlbom I., Hansson T., Jidell E., Juto P. [et al.]. Antigliadin immunoglobulin A best in finding celiac disease in children younger than 18 months of age. J. Pediatr. Gastroenterol. Nutr. 2008;47(4):428-435. https://doi.org/10.1097/MPG.0b013e31817d80f4
19. Arigliani M., Rech Morassutti F., Fabris M., Melli P., Tonutti E. [et al.] Coeliac disease in infants: antibodies to deamidated gliadin peptide come first! Ital. J. Pediatr. 2017;43(1):70. https://doi.org/10.1186/s13052-017-0392-6
20. Catassi C., Kryszak D., Bhatti B., Sturgeon C., Helzlsouer K. [et al.] Natural history of celiac disease autoimmunity in a USA cohort followed since 1974. Ann. Med. 2010;42(7):530-538. https://doi.org/10.3109/07853890.2010.514285
21. Gibson P. R., Shepherd S. J., Tye-Din J. A. For celiac disease, diagnosis is not enough. Clin. Gastroenterol. Hepatol. 2012;10(8):900-901. https://doi.org/10.1016/j.cgh.2012.03.020
22. Barker J. M., Liu E. Celiac disease: pathophysiology, clinical manifestations, and associated autoimmune conditions. Adv. Pediatr. 2008;55:349-365.
23. Denham J. M., Hill I. D. Celiac disease and autoimmunity: review and controversies. Curr. Allergy Asthma Rep. 2013;13(4):347-353. https://doi.org/10.1007/s11882-013-0352-1
24. Savvateeva L. V., Erdes S. I., Antishin A. S., Zamyatnin A. A. Jr. Current paediatric coeliac disease screening strategies and relevance of questionnaire survey. Int. Arch Allergy Immunol. 2018;27:1-11. https://doi.org/10.1159/000491496
25. Zakharova I. N., Dmitrieva Yu. A., Klimov L. Y., Dzebisova F. S. Controversial issues of prophylaxis of celiac disease. Meditsinsky sovet (Medical Council). 2015;14:119-122.
26. Shumilov P. V., Muhina Y. G., Netrebenko O. K., Ryazanova O. V., Schigaleva N. E. [et al.] Modern understanding of celiac disease pathogenetic mechanisms: defining role in course clinical variants. J. Pediatria. 2016;95(6):110-121.
27. Dieli-Crimi R., Cénit M. C., Núñez C. The genetics of celiac disease: A comprehensive review of clinical implications. J. Autoimmun. 2015;64:26-41. https://doi.org/10.1016/j.jaut.2015.07.003
28. Kasatkina E. N., Dmitrieva Yu. A., Roslavtseva E. A., Borovic T. E., Zakharova I.N. Distribution of HLA-DR-DQ genotypes in Russian children with coeliac disease. J. Pediatr. Gastroenterol. Nutr. 2018;66 (suppl. 1):S151-151.
29. Klimov L. Ya., Kuryaninova V. A., Stoyan M. V., Zakharova I. N., Dmitrieva Yu. A. [et al.] HLA-DQ in patients with coeliac disease living in South Russia. J. Pediatr. Gastroenterol. Nutr. 2018;64 (suppl.1):S197-197.
30. Kondrateva E. I., Yankina G. N., Dolbneva O. V. Incidence of polymorphic variants of HLA DQA1 and DQB1 genes in patients with celiac disease in the cities Tomsk and Krasnodar. Pediatric Nutrition. 2012;10(2):11-14.
31. Wolters V. M., Wijmenga C. Genetic background of celiac disease and its clinical implications. Am. J. Gastroenterol. 2008;103(1):190-195. https://doi.org/10.1111/j.1572-0241.2007.01471.x
32. Kumar V., Wijmenga C., Withoff S. From genome-wide association studies to disease mechanisms: celiac disease as a model for autoimmune diseases. Semin. Immunopathol. 2012;34(4):567-580. https://doi.org/10.1007/s00281-012-0312-1
33. Freeman H. J. Risk factors in familial forms of celiac disease. World J. Gastroenterol. 2010;16(15):1828-1831.
34. Camarca M. E., Mozzillo E., Nugnes R., Zito E., Falco M. [et al.] Celiac disease in type 1 diabetes mellitus. Ital. J. Pediatr. 2012;38:10. https://doi.org/10.1186/1824-7288-38-10
35. Smigoc Schweiger D., Mendez A., Kunilo Jamnik S., Bratanic N., Bratina N. [et al.] High-risk genotypes HLA-DR3-DQ2/DR3-DQ2 and DR3-DQ2/DR4-DQ8 in co-occurrence of type 1 diabetes and celiac disease. Autoimmunity. 2016;49(4):240-247. https://doi.org/10.3109/08916934.2016.1164144
36. Kaspers S., Kordonouri O., Schober E., Grabert M., Hauffa B. P. [et al.] Anthropometry, metabolic control, and thyroid autoimmunity in type 1 diabetes with celiac disease: A multicenter survey. J. Pediatr. 2004;145(6):790-795.
37. Cerutti F., Bruno G., Chiarelli F., Lorini R., Meschi F. [et al.] Younger age at onset and sex predict celiac disease in children and adolescents with type 1 diabetes: an Italian multicenter study. Diabetes Care. 2004;27(6):1294-1298.
38. Valerio G., Maiuri L., Troncone R., Buono P., Lombardi F. [et al.] Severe clinical onset of diabetes and increased prevalence of other autoimmune diseases in children with coeliac disease diagnosed before diabetes mellitus. Diabetologia. 2002;45(12):1719-1722.
39. Fasano A., Not T., Wang W., Uzzau S., Berti I. [et al.] Zonulin, a newly discovered modulator of intestinal permeability, and its expression in coeliac disease. Lancet. 2000;355(9214):1518-1519.
40. Visser J., Rozing J., Sapone A., Lammers K., Fasano A. Tight junctions, intestinal permeability, and autoimmunity: celiac disease and type 1 diabetes paradigms. Ann. N. Y. Acad. Sci. 2009;1165:195-205. https://doi.org/10.1111/j.1749-6632.2009.04037.x
41. Bao F., Yu L., Babu S., Wang T., Hoffenberg E. J. [et al.] One third of HLA DQ2 homozygous patients with type 1 diabetes express celiac disease-associated transglutaminase autoantibodies. J. Autoimmun.1999;13(1):143-148.
42. Freeman H. J. Endocrine manifestations in celiac disease. World J. Gastroenterol. 2016;22(38):8472-8479.
43. Diamanti A., Capriati T., Bizzarri C., Ferretti F., Ancinelli M. [et al.] Autoimmune diseases and celiac disease which came first: genotype or gluten? Expert Rev. Clin. Immunol. 2016;12(1):67-77. https://doi.org/10.1586/1744666X.2016.1095091
44. Viljamaa M., Kaukinen K., Huhtala H., Kyrönpalo S., Rasmussen M. [et al.] Coeliac disease, autoimmune diseases and gluten exposure. Scand. J. Gastroenterol. 2005;40(4):437-443.
45. Franzese A., Iafusco D., Spadaro R., Cavaliere O., Prisco F. [et al.] Potential celiac disease in type 1 diabetes: a multicenter study. Diabetes Res. Clin. Pract. 2011;92(1):53-56. https://doi.org/10.1016/j.diabres.2010
46. Tosco A., Salvati V.M., Auricchio R., Maglio M., Borrelli M. [et al.] Natural history of potential celiac disease in children. Clin. Gastroenterol. Hepatol. 2011;9(4):320- 325. https://doi.org/10.1016/ j.cgh.2010.09.006
47. Peretti N., Bienvenu F., Bouvet C., Fabien N., Tixier F. [et al.] The temporal relationship between the onset of type 1 diabetes and celiac disease: a study based on immunoglobulin an antitransglutaminase screening. Pediatrics. 2004;113(5):e418-422.
48. Karavanaki K., Kakleas K., Paschali E., Kefalas N., Konstantopoulos I. [et al.] Screening for associated autoimmunity in children and adolescents with type 1 diabetes mellitus (T1DM). Horm. Res. 2009;71(4):201- 206. https://doi:10.1159/000201108
49. Husby S., Koletzko S., Korponay-Szabó I. R., Mearin M. L., Phillips A. [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. https://doi.org/10.1097/MPG.0b013e31821a23d0
50. Lodhi M. U., Stammann T., Kuzel A. R., Syed I. A., Ishtiaq R. [et al.] Celiac disease and concomitant conditions: A case-based review. Cureus. 2018;10(2):e2143. https://doi.org/10.7759/cureus.2143
51. Ch’ng C. L., Biswas M., Benton A., Jones M. K., Kingham J. G. Prospective screening for coeliac disease in patients with Graves’ hyperthyroidism using anti-gliadin and tissue transglutaminase antibodies. Clin. Endocrinol. (Oxf). 2005;62(3):303-306.
52. Doğan Y., Yildirmaz S., Ozercan I. H. Prevalence of celiac disease among first-degree relatives of patients with celiac disease. J. Pediatr. Gastroenterol. Nutr. 2012;55(2):205- 208. https://doi.org/10.1097/MPG.0b013e318249378c
53. Fasano A., Berti I., Gerarduzzi T., Not T., Colletti R. B. [et al.] Prevalence of celiac disease in at-risk and not-atrisk groups in the United States: a large multicenter study. Arch. Intern. Med. 2003;163(3):286-292.
54. Gudjónsdóttir A. H., Nilsson S., Ek J., Kristiansson B., Ascher H. The risk of celiac disease in 107 families with at least two affected siblings. J. Pediatr. Gastroenterol. Nutr. 2004;38(3):338-342.
55. Singh P., Arora S., Lal S., Strand T. A., Makharia G. K. Risk of Celiac Disease in the First- and Second-Degree Relatives of Patients With Celiac Disease: A Systematic Review and Meta-Analysis. Am. J. Gastroenterol.
2015;110(11):1539-1548. https://doi.org/10.1038/ajg.2015.296
56. Rubio-Tapia A., van Dyke C. T., Lahr B. D., Zinsmeister A. R., El-Youssef M. [et al.] Predictors of family risk for celiac disease: a population-based study. Clin. Gastroenterol. Hepatol. 2008;6(9):983-987. https://doi.org/10.1016/j.cgh.2008.04.008
57. Castro-Antunes M. M., Magalhães R., Nobre L. M., Duarte B. P., Silva G. A. Celiac disease in first-degree relatives of patients. J. Pediatr (Rio J). 2010;86(4):331-336. https://doi:10.2223/JPED.2013
58. Goldberg D., Kryszak D., Fasano A., Green P. H. Screening for celiac disease in family members: is follow-up testing necessary? Dig. Dis. Sci. 2007;52(4):1082-1086.
59. Green P. H. R., Stavropoulos S. N., Panagi S. G., Goldstein S. L., Mcmahon D. J. [et al.] Characteristics of adult celiac disease in the USA: results of a national survey. Am. J. Gastroenterol. 2001;96(1):126-131.
60. Rubio-Tapia A., Hill I. D., Kelly C. P., Calderwood A. H., Murray J. A. ACG clinical guidelines: diagnosis and management of celiac disease. Am. J. Gastroenterol. 2013;108(5):656-676. https://doi.org/10.1038/ajg.2013.79

Keywords: celiac disease, screening, HLA, type I diabetes, autoimmune thyroid disease, tissue transglutaminase


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