Inflammatory bowel diseases: From pathogenesis to laboratory testing

Clinical Chemistry and Laboratory Medicine

Volumn 52, Issue 4, 2014, Pages 471-481

  Basso, Daniela ^a   Zambon, Carlo Federico ^a,b   Plebani, Mario ^a,b  

^a UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

anti saccharomyces cerevisiae antibody (ASCA); calprotectin; Crohn's disease; inflammatory bowel diseases; lactoferrin; perinuclear antineutrophil cytoplasmic antibodies (pANCA); thiopurine methyl transferase; ulcerative colitis

Indexed keywords

ADALIMUMAB; AMINOSALICYLIC ACID; ANTI SACCHAROMYCES CEREVISIAE ANTIBODY; ANTIBIOTIC AGENT; ANTIINFLAMMATORY AGENT; AZATHIOPRINE; C REACTIVE PROTEIN; CALCINEURIN INHIBITOR; CALGRANULIN; CIPROFLOXACIN; CORTICOSTEROID; IMMUNOGLOBULIN A ANTIBODY; IMMUNOGLOBULIN G ANTIBODY; LACTOFERRIN; MERCAPTOPURINE; METHOTREXATE; METRONIDAZOLE; NEUTROPHIL CYTOPLASMIC ANTIBODY; NONSTEROID ANTIINFLAMMATORY AGENT; PROBIOTIC AGENT; PROTON PUMP INHIBITOR; SALAZOSULFAPYRIDINE; THIOPURINE METHYLTRANSFERASE; UNCLASSIFIED DRUG;

ADAPTIVE IMMUNITY; ARTICLE; BACTERIAL INFECTION; BONE MARROW TOXICITY; COLORECTAL CANCER; CROHN DISEASE; DIAGNOSTIC TEST ACCURACY STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE MARKER; DRUG CONTRAINDICATION; ENVIRONMENTAL FACTOR; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME IMMUNOASSAY; ENZYME LINKED IMMUNOSORBENT ASSAY; FECES ANALYSIS; GASTROINTESTINAL DISEASE; GASTROINTESTINAL INFECTION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENOTYPE; GIARDIA LAMBLIA; HELICOBACTER INFECTION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFLAMMATORY BOWEL DISEASE; INNATE IMMUNITY; INTESTINE MUCOSA; INTESTINE MUCOSA PERMEABILITY; LABORATORY TEST; PATHOGENESIS; PATIENT SAFETY; PHARMACOGENETICS; POINT OF CARE TESTING; PREDICTION; PRIORITY JOURNAL; QUALITY CONTROL; RELAPSE; RISK; SENSITIVITY AND SPECIFICITY; SERUM; TANDEM MASS SPECTROMETRY; TREATMENT OUTCOME; ULCERATIVE COLITIS; VIRAL GASTROENTERITIS; ANIMAL; CHEMISTRY; DIAGNOSTIC PROCEDURE; FECES; GENETICS; IMMUNOLOGY; INFLAMMATORY BOWEL DISEASES;

ANIMALS; CLINICAL LABORATORY TECHNIQUES; FECES; HUMANS; INFLAMMATORY BOWEL DISEASES;

EID: 84896757115     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/cclm-2013-0588     Document Type: Article

References (92)

1. Bernstein CN, Fried M, Krabshuis JH, Cohen H, Eliakim R, Fedail S, et al. World gastroenterology organization practice guidelines for the diagnosis and management of IBD in 2010. Inflamm Bowel Dis 2010;16:112-24.
2. Guariso G, Gasparetto M, Visonà Dalla Pozza L, D'Incà R, Zancan L, Sturniolo G, et al. Inflammatory bowel disease developing in paediatric and adult age. J Pediatr Gastroenterol Nutr 2010;51:698-707.
3. Ruemmele FM. Pediatric inflammatory bowel diseases: coming of age. Curr Opin Gastroenterol 2010;26:332-6.
4. Ferguson LR, Shelling AN, Browning BL, Huebner C, Petermann I. Genes, diet and inflammatory bowel disease. Mutat Res 2007;622:70-83. (Pubitemid 47214578)
5. Xavier RJ, Podolsky DK. Unravelling the pathogenesis of inflammatory bowel disease. Nature 2007;448:427-34. (Pubitemid 47123518)
6. de Mesquita MB, Civitelli F, Levine A. Epidemiology, genes and inflammatory bowel diseases in childhood. Dig Liver Dis 2008;40:3-11. (Pubitemid 350246387)
7. Renz H, von Mutius E, Brandtzaeg P, Cookson WO, Autenrieth IB, Haller D. Gene-environment interactions in chronic inflammatory disease. Nat Immunol 2011;12:273-7.
8. Hou JK, Abraham B, El-Serag H. Dietary intake and risk of developing inflammatory bowel disease: a systematic review of the literature. Am J Gastroenterol 2011;106:563-73.
9. Khor B, Gardet A, Xavier RJ. Genetics and pathogenesis of inflammatory bowel disease. Nature 2011;474:307-17.
10. Maloy KJ, Powrie F. Intestinal homeostasis and its breakdown in inflammatory bowel disease. Nature 2011;474:298-306.
11. Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, et al. Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology 2012;143:347-55.
12. Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008;40:955-62.
13. Kugathasan S, Baldassano RN, Bradfield JP, Sleiman PM, Imielinski M, Guthery SL, et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet 2008;40:1211-5.
14. Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet 2009;41:1335-40.
15. Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 2010;42:1118-25.
16. Imielinski M, Hakonarson H. Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond. Pharmacogenomics 2010;11:663-5.
17. Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 2011;43:246-52.
18. Rivas MA, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang CK, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet 2011;43:1066-73.
19. Anderson CA, Massey DC, Barrett JC, Prescott NJ, Tremelling M, Fisher SA, et al. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. Gastroenterology 2009;136:523-9.
20. Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012;491:119-24.
21. Pedra JH, Cassel SL, Sutterwala FS. Sensing pathogens and danger signals by the inflammasome. Curr Opin Immunol 2009;21:10-6.
22. De Iudicibus S, Stocco G, Martelossi S, Londero M, Ebner E, Pontillo A, et al. Genetic predictors of glucocorticoid response in pediatric patients with inflammatory bowel diseases. J Clin Gastroenterol 2011;45:e1-7.
23. Zaki MH, Lamkanfi M, Kanneganti TD. The Nlrp3 inflammasome: contributions to intestinal homeostasis. Trends Immunol 2011;32:171-9.
24. Villani AC, Lemire M, Fortin G, Louis E, Silverberg MS, Collette C, et al. Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Nat Genet 2009;41:71-6.
25. Zaki MH, Boyd KL, Vogel P, Kastan MB, Lamkanfi M, Kanneganti TD. The NLRP3 inflammasome protects against loss of epithelial integrity and mortality during experimental colitis. Immunity 2010;32:379-91.
26. Chang F, Mahadeva U, Deere H. Pathological and clinical significance of increased intraepithelial lymphocytes (IELs) in small bowel mucosa. APMIS 2005;113:385-99. (Pubitemid 40961720)
27. Hayday A, Theodoridis E, Ramsburg E, Shires J. Intraepithelial lymphocytes: exploring the Third Way in immunology. Nat Immunol 2001;2:997-1003. (Pubitemid 33069493)
28. Koning F, Gilissen L, Wijmenga C. Gluten: a two-edged sword. Immunopathogenesis of celiac disease. Springer Semin Immunopathol 2005;27:217-32. (Pubitemid 41291626)
29. Green PH, Cellier C. Celiac disease. N Engl J Med 2007;357: 1731-43.
30. Kagnoff MF. Celiac disease: pathogenesis of a model immuno-genetic disease. J Clin Invest 2007;117:41-9. (Pubitemid 46048448)
31. Briani C, Samaroo D, Alaedini A. Celiac disease: from gluten to autoimmunity. Autoimmun Rev 2008;7:644-50.
32. Wang AH, Lam WJ, Han DY, Ding Y, Hu R, Fraser AG, et al. The effect of IL-10 genetic variation and interleukin 10 serum levels on Crohn's disease susceptibility in a New Zealand population. Hum Immunol 2011;72:431-5.
33. Monteleone G, Pallone F, MacDonald TT. Emerging immuno-logical targets in inflammatory bowel disease. Curr Opin Pharmacol 2011;11:640-5.
34. Ostanin DV, Bhattacharya D. Myeloid-derived suppressor cells in the inflammatory bowel diseases. Inflamm Bowel Dis 2013;19:2468-77.
35. Somma V, Ababneh H, Ababneh A, Gatti S, Romagnoli V, Bendia E, et al. The novel Crohn's disease marker anti-GP2 antibody is associated with ileocolonic location of disease. Gastroenterol Res Pract 2013;2013:683824.
36. Roggenbuck D, Hausdorf G, Martinez-Gamboa L, Reinhold D, Büttner T, Jungblut PR, et al. Identification of GP2, the major zymogen granule membrane glycoprotein, as the autoantigen of pancreatic antibodies in Crohn's disease. Gut 2009;58:1620-8.
37. Issa M, Saeian K. Diet in inflammatory bowel disease. Nutr Clin Pract 2011;26:151-4.
38. Bernstein CN, Rawsthorne P, Cheang M, Blanchard JF. A population-based case control study of potential risk factors for IBD. Am J Gastroenterol 2006;101:993-1002. (Pubitemid 43725312)
39. Sakamoto N, Kono S, Wakai K, Fukuda Y, Satomi M, Shimoyama T, et al. Dietary risk factors for inflammatory bowel disease: a multicenter case-control study in Japan. Inflamm Bowel Dis 2005;11:154-63. (Pubitemid 40711220)
40. Langhorst J, Elsenbruch S, Koelzer J, Rueffer A, Michalsen A, Dobos GJ. Noninvasive markers in the assessment of intestinal inflammation in inflammatory bowel diseases: performance of fecal lactoferrin, calprotectin, and PMN-elastase, CRP, and clinical indices. Am J Gastroenterol 2008;103:162-9.
41. Wong A, Bass D. Laboratory evaluation of inflammatory bowel disease. Curr Opin Pediatr 2008;20:566-70.
42. Joishy M, Davies I, Ahmed M, Wassel J, Davies K, Sayers A, et al. Fecal calprotectin and lactoferrin as noninvasive markers of pediatric inflammatory bowel disease. J Pediatr Gastroenterol Nutr 2009;48:48-54.
43. Ayling RM. New faecal tests in gastroenterology. Ann Clin Biochem 2012;49:44-54.
44. Sherwood RA. Faecal markers of gastrointestinal inflammation. J Clin Pathol 2012;65:981-5.
45. van Rheenen PF, Van de Vijver E, Fidler V. Faecal calprotectin for screening of patients with suspected inflammatory bowel disease: diagnostic meta-analysis. Br Med J 2010;341:c3369.
46. Gisbert JP, McNicholl AG, Gomollon F. Questions and answers on the role of fecal lactoferrin as a biological marker in inflammatory bowel disease. Inflamm Bowel Dis 2009;15: 1746-54.
47. Røseth AG, Aadland E, Grzyb K. Normalization of faecal calprotectin: a predictor of mucosal healing in patients with inflammatory bowel disease. Scand J Gastroenterol 2004;39:1017-20. (Pubitemid 39388470)
48. Solem CA, Loftus EV Jr, Tremaine WJ, Harmsen WS, Zinsmeister AR, Sandborn WJ. Correlation of C-reactive protein with clinical, endoscopic, histologic, and radiographic activity in inflammatory bowel disease. Inflamm Bowel Dis 2005;11:707-12. (Pubitemid 41271173)
49. D'Incà R, Dal Pont E, Di Leo V, Ferronato A, Fries W, Vettorato MG, et al. Calprotectin and lactoferrin in the assessment of intestinal inflammation and organic disease. Int J Colorectal Dis 2007;22:429-37. (Pubitemid 46336248)
50. Sipponen T, Kärkkäinen P, Savilahti E, Kolho KL, Nuutinen H, Turunen U, et al. Correlation of faecal calprotectin and lactoferrin with an endoscopic score for Crohn's disease and histological findings. Aliment Pharmacol Ther 2008;28:1221-9.
51. Schoepfer AM, Beglinger C, Straumann A, Trummler M, Renzulli P, Seibold F. Ulcerative colitis: correlation of the Rachmilewitz endoscopic activity index with fecal calprotectin, clinical activity, C-reactive protein, and blood leukocytes. Inflamm Bowel Dis 2009;15:1851-8.
52. Schoepfer AM, Beglinger C, Straumann A, Trummler M, Vavricka SR, Bruegger LE, et al. Fecal calprotectin correlates more closely with the simple endoscopic score for Crohn's disease (SES-CD) than CRP, blood leukocytes, and the CDAI. Am J Gastroenterol 2010;105:162-9.
53. Sipponen T, Björkesten CG, Färkkilä M, Nuutinen H, Savilahti E, Kolho KL. Faecal calprotectin and lactoferrin are reliable surrogate markers of endoscopic response during Crohn's disease treatment. Scand J Gastroenterol 2010;45:325-31.
54. Lobatón T, Rodríguez-Moranta F, Lopez A, Sánchez E, Rodríguez-Alonso L, Guardiola J. A new rapid quantitative test for fecal calprotectin predicts endoscopic activity in ulcerative colitis. Inflamm Bowel Dis 2013;19:1034-42.
55. Tibble JA, Sigthorsson G, Bridger S, Fagerhol MK, Bjarnason I. Surrogate markers of intestinal inflammation are predictive of relapse in patients with inflammatory bowel disease. Gastroen-terology 2000;119:15-22. (Pubitemid 30452574)
56. Scarpa M, D'Incà R, Basso D, Ruffolo C, Polese L, Bertin E, et al. Fecal lactoferrin and calprotectin after ileocolonic resection for Crohn's disease. Dis Colon Rectum 2007;50:861-9. (Pubitemid 46870452)
57. D'Incà R, Dal Pont E, Di Leo V, Benazzato L, Martinato M, Lamboglia F, et al. Can calprotectin predict relapse risk in inflammatory bowel disease? Am J Gastroenterol 2008;103:2007-14.
58. Costa F, Mumolo MG, Ceccarelli L, Bellini M, Romano MR, Sterpi C, et al. Calprotectin is a stronger predictive marker of relapse in ulcerative colitis than in Crohn's disease. Gut 2005;54:364-8. (Pubitemid 40299092)
59. Walkiewicz D, Werlin SL, Fish D, Scanlon M, Hanaway P, Kugathasan S. Fecal calprotectin is useful in predicting disease relapse in pediatric inflammatory bowel disease. Inflamm Bowel Dis 2008;14:669-73. (Pubitemid 351742984)
60. Louis E, Mary JY, Vernier-Massouille G, Grimaud JC, Bouhnik Y, Laharie D, et al. Maintenance of remission among patients with Crohn's disease on antimetabolite therapy after infliximab therapy is stopped. Gastroenterology 2012;142:63-70.
61. Whitehead SJ, French J, Brookes MJ, Ford C, Gama R. Between-assay variability of faecal calprotectin enzyme-linked immunosorbent assay kits. Ann Clin Biochem 2013;50:53-61.
62. Angriman I, Scarpa M, D'Incà R, Basso D, Ruffolo C, Polese L, et al. Enzymes in feces: useful markers of chronic inflammatory bowel disease. Clin Chim Acta 2007;381:63-8. (Pubitemid 46719135)
63. Joshi S, Lewis SJ, Creanor S, Ayling RM. Age-related faecal calprotectin, lactoferrin and tumour M2-PK concentrations in healthy volunteers. Ann Clin Biochem 2010;47:259-63.
64. Husebye E, Tøn H, Johne B. Biological variability of fecal calprotectin in patients referred for colonoscopy without colonic inflammation or neoplasm. Am J Gastroenterol 2001;96:2683-7.
65. Dolci A, Panteghini M. Comparative study of a new quantitative rapid test with an established ELISA method for faecal calprotectin. Clin Chim Acta 2012;413:350-1.
66. Kolho KL, Turner D, Veereman-Wauters G, Sladek M, de Ridder L, Shaoul R, et al. Rapid test for fecal calprotectin levels in children with Crohn disease. J Pediatr Gastroenterol Nutr 2012;55:436-9.
67. Sydora MJ, Sydora BC, Fedorak RN. Validation of a point-of-care desk top device to quantitate fecal calprotectin and distinguish inflammatory bowel disease from irritable bowel syndrome. J Crohns Colitis 2012;6:207-14.
68. Wassell J, Wallage M, Brewer E. Evaluation of the Quantum Blue® rapid test for faecal calprotectin. Ann Clin Biochem 2012;49:55-8.
69. Reese GE, Constantinides VA, Simillis C, Darzi AW, Orchard TR, Fazio VW, et al. Diagnostic precision of anti-Saccharomyces cerevisiae antibodies and perinuclear antineutrophil cytoplasmic antibodies in inflammatory bowel disease. Am J Gastroenterol 2006;101:2410-22. (Pubitemid 44477569)
70. Peyrin-Biroulet L, Standaert-Vitse A, Branche J, Chamaillard M. IBD serological panels: facts and perspectives. Inflamm Bowel Dis 2007;13:1561-6.
71. Iskandar HN, Ciorba MA. Biomarkers in inflammatory bowel disease: current practices and recent advances. Transl Res 2012;159:313-25.
72. de Vries M, van der Horst-Bruinsma I, van Hoogstraten I, van Bodegraven A, von Blomberg BM, Ratnawati H, et al. pANCA, ASCA, and OmpC antibodies in patients with ankylosing spondylitis without inflammatory bowel disease. J Rheumatol 2010;37:2340-4.
73. Lewis JD. The utility of biomarkers in the diagnosis and therapy of inflammatory bowel disease. Gastroenterology 2011;140:1817-26.
74. Kim WH, Choi PM, Landers CJ, Targan SR. Role of antineutrophil cytoplasmic antibodies in an ethnically distinct population: Korean patients with ulcerative colitis. Am J Gastroenterol 1995;90:1953-8.
75. Kaul A, Hutfless S, Liu L, Bayless TM, Marohn MR, Li X. Serum anti-glycan antibody biomarkers for inflammatory bowel disease diagnosis and progression: a systematic review and meta-analysis. Inflamm Bowel Dis 2012;18:1872-84.
76. Dotan I. New serologic markers for inflammatory bowel disease diagnosis. Dig Dis 2010;28:418-23.
77. Dassopoulos T, Frangakis C, Cruz-Correa M, Talor MV, Burek CL, Datta L, et al. Antibodies to Saccharomyces cerevisiae in Crohn's disease: higher titers are associated with a greater frequency of mutant NOD2/CARD15 alleles and with a higher probability of complicated disease. Inflamm Bowel Dis 2007;13:143-51. (Pubitemid 46806222)
78. Papp M, Altorjay I, Dotan N, Palatka K, Foldi I, Tumpek J, et al. New serological markers for inflammatory bowel disease are associated with earlier age at onset, complicated disease behavior, risk for surgery, and NOD2/CARD15 genotype in a Hungarian IBD cohort. Am J Gastroenterol 2008;103:665-81. (Pubitemid 351405992)
79. Michielan A, Basso D, Martinato M, Pathak S, Banerjee A, Oliva L, et al. Increased antibody response to microbial antigens in patients with Crohn's disease and their unaffected first-degree relatives. Dig Liver Dis 2013, in press.
80. van Schaik FD, Oldenburg B, Hart AR, Siersema PD, Lindgren S, Grip O, et al. Serological markers predict inflammatory bowel disease years before the diagnosis. Gut 2013;62:683-8.
81. Roggenbuck D, Reinhold D, Wex T, Goihl A, von Arnim U, Malfertheiner P, et al. Autoantibodies to GP2, the major zymogen granule membrane glycoprotein, are new markers in Crohn's disease. Clin Chim Acta 2011;412:718-24.
82. Hollander D. Permeability in Crohn's disease: altered barrier functions in healthy relatives? Gastroenterology 1993;104:1848-51. (Pubitemid 23235481)
83. Peeters M, Geypens B, Claus D, Nevens H, Ghoos Y, Verbeke G, et al. Clustering of increased small intestinal permeability in families with Crohn's disease. Gastroenterology 1997;113:802-7. (Pubitemid 27381139)
84. Hollander D. Intestinal permeability barrier in Crohn's disease: The difficulty in shifting the paradigm. Dig Dis Sci 2013;58:1827-9.
85. Buhner S, Buning C, Genschel J, Kling K, Herrmann D, Dignass A, et al. Genetic basis for increased intestinal permeability in families with Crohn's disease: role of CARD15 3020insC mutation? Gut 2006;55:342-7. (Pubitemid 43268271)
86. Economou M, Trikalinos TA, Loizou KT, Tsianos EV, Ioannidis JP. Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. Am J Gastro-enterol 2004;99:2393-404. (Pubitemid 40039371)
87. Cho JH, Brant SR. Recent insights into the genetics of inflammatory bowel disease. Gastroenterology 2011;140: 1704-12.
88. Georges M. The long and winding road from correlation to causation. Nat Genet 2011;43:180-1.
89. Relling MV, Gardner EE, Sandborn WJ, Schmiegelow K, Pui CH, Yee SW, et al. Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin Pharmacol Ther 2011;89:387-91.
90. Donnan JR, Ungar WJ, Mathews M, Rahman P. Systematic review of thiopurine methyltransferase genotype and enzymatic testing strategies. Ther Drug Monit 2011;33:192-9.
91. Schaeffeler E, Fischer C, Brockmeier D, Wernet D, Moerike K, Eichelbaum M, et al. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics 2004;14: 407-17. (Pubitemid 38971231)
92. Chisick L, Oleschuk C, Bernstein CN. The utility of thiopurine methyltransferase enzyme testing in inflammatory bowel disease. Can J Gastroenterol 2013;27:39-43.