Enfermedad celíaca: un reto diagnóstico en Colombia

Celiac disease: a diagnostic challenge in Colombia

Introducción: la enfermedad celíaca (EC) es una patología sistémica inmunomediada por el gluten en la dieta en personas genéticamente susceptibles con un amplio rango de manifestaciones clínicas, respuesta serológica específica y daño variable de la mucosa intestinal. Objetivo: revisar la fisiopatología, manifestaciones clínicas, diagnóstico, tratamiento, seguimiento y pronóstico de la EC, resaltando la importancia de reconocerla y proponer un algoritmo diagnóstico para la población colombiana. Materiales y métodos: revisión crítica de la literatura científica en las bases de datos Medline y buscadores específicos PUBMED, SCIENCE DIRECT, SCIELO, filtrando resultados a revisiones sistemáticas, metaanálisis, ensayos controlados aleatorios, ensayos clínicos y guías, con un total de 1209 artículos, de los cuales se priorizaron 53. Resultados y discusión: la prevalencia de la EC viene en aumento en países en vía de desarrollo. El diagnóstico tiene tres pilares fundamentales: identificación de casos de alto riesgo o sospecha por manifestaciones clínicas, perfil serológico de anticuerpos específicos y hallazgos histológicos característicos. El tratamiento se basa en dieta sin gluten, detección temprana de complicaciones y manejo de las alteraciones nutricionales. Conclusión: en Colombia no existen protocolos de diagnóstico y tratamiento de la EC, como tampoco una legislación clara con respecto al etiquetado de productos libres de gluten. Hay que establecer estrategias para impactar el curso natural de la enfermedad, las morbilidades asociadas y la calidad de vida de los pacientes.

1. Fasano A, Catassi C. Celiac disease. N Engl J Med. 2012;367(25):2419–26. doi: 10.1056/NEJMcp1113994
2. Caio G, Volta U, Sapone A, Leffler DA, De Giorgio R, Catassi C, et al. Celiac disease: a comprehensive current review. BMC Med. 2019;17(1):142. doi: 10.1186/s12916-019-1380-z
3. Al-Toma A, Volta U, Auricchio R, Castillejo G, Sanders DS, Cellier C, et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United Eur Gastroenterol J. 2019;7(5):583–613. doi: 10.1177/2050640619844125
4. Rej A, Aziz I, Sanders DS. Breaking bread! Proc Nutr Soc. 2019;78(1):118–25. doi: 10.1017/S0029665118002549
5. Singh P, Arora A, Strand TA, Leffler DA, Catassi C, Green PH, et al. Global Prevalence of Celiac Disease: Systematic Review and Meta-analysis. Clin Gastroenterol Hepatol. 2018;16(6):823-836.e2. doi: 10.1016/j.cgh.2017.06.037
6. Parra-Medina R, Molano-Gonzalez N, Rojas-Villarraga A, Agmon-Levin N, Arango MT, Shoenfeld Y, et al. Prevalence of celiac disease in Latin America: A systematic review and meta-regression. PLoS One. 2015;10(5): e0124040. doi: 10.1371/journal.pone.0124040
7. King JA, Jeong J, Underwood FE, Quan J, Panaccione N, Windsor JW, et al. Incidence of Celiac Disease Is Increasing over Time: A Systematic Review and Meta-analysis. Am J Gastroenterol. 2020;115(4):507–25. doi: 10.14309/ajg.0000000000000523
8. Lebwohl B, Rubio-Tapia A. Epidemiology, Presentation, and Diagnosis of Celiac Disease. Gastroenterology. 2021;160(1):63-75. doi: 10.1053/j.gastro.2020.06.098
9. Husby S, Murray JA, Katzka DA. AGA Clinical Practice Update on Diagnosis and Monitoring of Celiac Disease—Changing Utility of Serology and Histologic Measures: Expert Review. Gastroenterology. 2019;156(4):885–9. doi: 10.1053/j.gastro.2018.12.010
10. Sierra M, Hernanz N, I Gala, Alonso L. Enfermedad celiaca. Med. 2020;13(1):9–15. doi: 10.1016/j.med.2020.01.002
11. Leonard MM, Sapone A, Catassi C, Fasano A. Celiac disease and nonceliac gluten sensitivity: A review. JAMA - J Am Med Assoc. 2017;318(7):647–656. doi: 10.1001/jama.2017.9730
12. Lebwohl B, Sanders DS, Green PHR. Coeliac disease. Lancet. 2018;391(10115):70–81. doi: 10.1016/S0140-6736(17)31796-8
13. Hujoel IA, Reilly NR, Rubio-Tapia A. Celiac Disease: Clinical Features and Diagnosis. Gastroenterol Clin North Am. 2019;48(1):19–37. doi: 10.1016/j.gtc.2018.09.001
14. Volta U, Caio G, Stanghellini V, De Giorgio R. The changing clinical profile of celiac disease: A 15-year experience (1998-2012) in an Italian referral center. BMC Gastroenterol. 2014;14:194. doi: 10.1186/s12876-014-0194-x.
15. Kowalski K, Mulak A, Jasińska M, Paradowski L, Jasiñska M, Paradowski L. Diagnostic challenges in celiac disease. Adv Clin Exp Med. 2017;26(4):729–37. doi: 10.17219/acem/62452
16. Oxentenko AS, Rubio-Tapia A. Celiac Disease. Mayo Clin Proc. 2019;94(12):2556–2571. doi: 10.1016/j.mayocp.2019.02.019
17. Pinto-Sánchez MI, Bercik P, Verdu EF, Bai JC. Extraintestinal Manifestations of Celiac Disease. Dig Dis. 2015;33(2):147–54. doi: 10.1159/000369541
18. Kaukinen K. Updates on systemic consequences of coeliac disease. Nat Rev Gastroenterol Hepatol. 2021;18(2):87–88. doi: 10.1038/s41575-020-00387-0
19. Fousekis FS, Beka ET, Mitselos I V., Milionis H, Christodoulou DK. Thromboembolic complications and cardiovascular events associated with celiac disease. Ir J Med Sci. 2021;190(1):133–41. doi: 10.1007/s11845-020-02315-2
20. Leffler DA, Green PHR, Fasano A. Extraintestinal manifestations of coeliac disease. Nat Rev Gastroenterol Hepatol. 2015;12(10):561–571. doi: 10.1038/nrgastro.2015.131
21. Rubin JE, Crowe SE. Celiac Disease. Ann Intern Med. 2020;172(1):ITC1-ITC16. doi: 10.7326/AITC202001070.
22. Hadjivassiliou M, Croall ID, Zis P, Sarrigiannis PG, Sanders DS, Aeschlimann P, et al. Neurologic Deficits in Patients With Newly Diagnosed Celiac Disease Are Frequent and Linked With Autoimmunity to Transglutaminase 6. Clin Gastroenterol Hepatol. 2019;17(13):2678-2686.e2. doi: 10.1016/j.cgh.2019.03.014
23. Green PHR, Rostami K, Marsh MN. Diagnosis of coeliac disease. Best Pract Res Clin Gastroenterol. 2005;19(3):389–400. doi: 10.1016/j.bpg.2005.02.006
24. Fuchs V, Kurppa K, Huhtala H, Laurila K, Mäki M, Collin P, et al. Serology-based criteria for adult coeliac disease have excellent accuracy across the range of pre-test probabilities. Aliment Pharmacol Ther. 2019;49(3):277–284. doi: 10.1111/apt.15109
25. Robert ME, Crowe SE, Burgart L, Yantiss RK, Lebwohl B, Greenson JK, et al. Statement on Best Practices in the Use of Pathology as a Diagnostic Tool for Celiac Disease. Am J Surg Pathol. 2018;42(9):e44–58. doi: 10.1097/PAS.0000000000001107
26. Volta U, Fabbri A, Parisi C, Piscaglia M, Caio G, Tovoli F, et al. Old and new serological tests for celiac disease screening. Expert Rev Gastroenterol Hepatol. 2010;4(1):31–35. doi: 10.1586/egh.09.66
27. Ministerio de Salud. Documento de consenso de Enfermedad Celíaca 2017. Dir Nac Promoción la Salud y Control Enfermedades Crónicas No Transm; Argentina. 2017.
28. Charlesworth RP. Diagnosing coeliac disease: Out with the old and in with the new? World J Gastroenterol. 2020;26(1):1–10. doi: 10.3748/wjg.v26.i1.1
29. Oxentenko AS, Murray JA. Celiac Disease: Ten Things That Every Gastroenterologist Should Know. Clin Gastroenterol Hepatol. 2015;13(8):1396–404. quiz e127-9. doi: 10.1016/j.cgh.2014.07.024
30. Bai JC, Fried M, Corazza GR, Schuppan D, Farthing M, Catassi C, et al. World Gastroenterology Organisation Global Guidelines on Celiac Disease. J Clin Gastroenterol. 2013;47(2):121–126. doi: 10.1097/MCG.0b013e31827a6f83
31. Wilcox CM, Muñoz-Navas M, Sung JJY. Duodeno e intestino delgado. En: Balaguer Prunés F., Editor. Atlas Endosc Gastrointest. 2ed. España: Elsevier; 2008. p.223–300.
32. Pallav K, Kabbani T, Tariq S, Vanga R, Kelly CP, Leffler DA. Clinical Utility of Celiac Disease-Associated HLA Testing. Dig Dis Sci. 2014;59(9):2199–2206. doi: 10.1007/s10620-014-3143-1
33. Remes-troche JM, Uscanga-domínguez LF, Aceves-tavares RG, et al. Guía clínica para diagnóstico y tratamiento de la enfermedad celíaca en México. 2018;83(4):434–50. https://doi.org/10.1016/j.rgmx.2018.05.005
34. Werkstetter KJ, Korponay-Szabó IR, Popp A, Villanacci V, Salemme M, Heilig G, et al. Accuracy in Diagnosis of Celiac Disease Without Biopsies in Clinical Practice. Gastroenterology. 2017;153(4):924–935. doi: 10.1053/j.gastro.2017.06.002
35. Mitchell RT, Sun A, Mayo A, Forgan M, Comrie A, Gillett PM. Coeliac screening in a Scottish cohort of children with type 1 diabetes mellitus: is DQ typing the way forward? Arch Dis Child. 2016 Mar;101(3):230–233. doi: 10.1136/archdischild-2015-309754
36. Domsa EM, Berindan-Neagoe I, Para I, Munteanu L, Matei D, Andreica V. Celiac disease: A multi-faceted medical condition. J Physiol Pharmacol. 2020;71(1):1–12. doi: 10.26402/jpp.2020.1.01
37. Choung RS, Lamba A, Marietta E V., See JA, Larson JJ, King KS, et al. Effect of a Gluten-free Diet on Quality of Life in Patients With Nonclassical Versus Classical Presentations of Celiac Disease. J Clin Gastroenterol. 2020;54(7):620–625. doi: 10.1097/MCG.0000000000001277
38. Elli L, Casazza G, Locatelli M, Branchi F, Ferretti F, Conte D, et al. Use of enteroscopy for the detection of malignant and premalignant lesions of the small bowel in complicated celiac disease: a meta-analysis. Gastrointest Endosc. 2017;86(2):264-273.e1. doi: 10.1016/j.gie.2017.04.006
39. Forbes GM. Safety of gluten in gluten-free foods. United Eur Gastroenterol J. 2016;4(1):152. doi: 10.1177/2050640615594750
40. Biesiekierski JR. What is gluten? J Gastroenterol Hepatol. 2017;32:78–81. doi: 10.1111/jgh.13703
41. Shah S, Akbari M, Vanga R, Kelly CP, Hansen J, Theethira T, et al. Patient Perception of Treatment Burden Is High in Celiac Disease Compared With Other Common Conditions. Am J Gastroenterol. 2014;109(9):1304–1311. doi: 10.1038/ajg.2014.29
42. Kivelä L, Caminero A, Leffler DA, Pinto-Sanchez MI, Tye-Din JA, Lindfors K. Current and emerging therapies for coeliac disease. Nat Rev Gastroenterol Hepatol. 2021;18(3):181–195. doi: 10.1038/s41575-020-00378-1
43. Syage JA, Murray JA, Green PHR, Khosla C. Latiglutenase Improves Symptoms in Seropositive Celiac Disease Patients While on a Gluten-Free Diet. Dig Dis Sci. 2017 Sep 28;62(9):2428–2432. doi: 10.1007/s10620-017-4687-7
44. Goel G, King T, Daveson AJ, Andrews JM, Krishnarajah J, Krause R, et al. Epitope-specific immunotherapy targeting CD4-positive T cells in coeliac disease: two randomised, double-blind, placebo-controlled phase 1 studies. Lancet Gastroenterol Hepatol. 2017;2(7):479–493. doi: 10.1016/S2468-1253(17)30110-3
45. Mukewar SS, Sharma A, Rubio-Tapia A, Wu T-T, Jabri B, Murray JA. Open-Capsule Budesonide for Refractory Celiac Disease. Am J Gastroenterol. 2017;112(6):959–967. doi: 10.1038/ajg.2017.71
46. Chibbar, Dieleman. The Gut Microbiota in Celiac Disease and probiotics. Nutrients. 2019;11(10):2375. doi: 10.3390/nu11102375
47. Pecora F, Persico F, Gismondi P, Fornaroli F, Iuliano S, De’Angelis GL, et al. Gut Microbiota in Celiac Disease: Is There Any Role for Probiotics? Front Immunol. 2020;11. 957. doi: 10.3389/fimmu.2020.00957
48. Husby S, Bai JC. Follow-up of Celiac Disease. Gastroenterol Clin North Am. 2019;48(1):127–136. doi: 10.1016/j.gtc.2018.09.009
49. Silvester JA, Kurada S, Szwajcer A, Kelly CP, Leffler DA, Duerksen DR. Tests for Serum Transglutaminase and Endomysial Antibodies Do Not Detect Most Patients With Celiac Disease and Persistent Villous Atrophy on Gluten-free Diets: a Meta-analysis. Gastroenterology. 2017;153(3):689-701.e1. doi: 10.1053/j.gastro.2017.05.015
50. Makovicky P, Makovicky P, Caja F, Rimarova K, Samasca G, Vannucci L. Celiac disease and gluten-free diet: past, present, and future. Gastroenterol Hepatol from bed to bench. 2020;13(1):1–7.
51. Arce T, Arguelles F, Arranz E, Camarero C, Esteban B, Galves G, et al. Todo sobre la enfermedad celíaca. 2006.