IgG4-releated disease

Česká verzia

Authors: Z. Adam ¹; Z. Adamová ²; Z. Řehák ³; R. Koukalová ³
Authors place of work: Interní hematologická a onkologická klinika LF MU FN Brno ¹; Chirurgické oddělení, Vsetínská nemocnice a. s. ²; Oddělení nukleární medicíny, MOU Brno ³
Published in the journal: Klin Onkol 2021; 34(2): 92-102
Category: Review
doi: https://doi.org/10.48095/ccko202192

Summary

Background: IgG4-related disease (IgG4-RD) is a non-malignant, chronic, immune-related disease. It was first recognized as a distinct disease in 2012 and the first classification criteria were published in 2020. This new entity can cause fibroinflammatory lesions in nearly any organ. It often presents as a multi-organ disease and can be confused with malignancy, infection or other immune-mediated conditions. Although the disease could affect virtually any organ, there are strong predilections for certain organs: the major salivary glands, the orbits and lacrimal glands, the pancreas and biliary tree, the lungs, the kidneys, the aorta and retroperitoneum, the meninges and the thyroid gland. Purpose: Correlation among clinical, serologic, radiologic and pathologic data is required for establishing IgG4-RD. We sum up the newest information necessary for the diagnosis.

Keywords:

IgG4 – Castleman disease – Eosinophilia – pancreatic tumor

Zdroje

1. Hamano H, Kawa S, Horiuchi A et al. High serum IgG4 concentrations in patients with sclerosing pancreatitis. N Engl J Med 2001; 344 (10): 732–738. doi: 10.1056/NEJM200103083441005.

2. Kamisawa T, Funata N, Hayashi Y et al. A new clinicopathological entity of IgG4-related autoimmune disease. J Gastroenterol 2003; 38 (10): 982–984. doi: 10.1007/s00535-003-1175-y.

3. Deshpande V, Zen Y, Chan JK et al. Consensus statement on the pathology of IgG4-related disease. Mod Pathol 2012; 25 (9): 1181–1192. doi: 10.1038/modpathol.2012.72.

4. Stone JH, Khosroshahi A, Deshpande V et al. Recommendations for the nomenclature of IgG4-related disease and its individual organ system manifestations. Arthritis Rheum 2012; 64 (10): 3061–3067. doi: 10.1002/art.34593.

5. Mahajan VS, Mattoo H, Deshpande V et al. IgG4-related disease. Annu Rev Pathol 2014; 9: 315–347. doi: 10.1146/annurev-pathol-012513-104708.

6. Karim F, Loeffen J, Bramer W et al. IgG4-related disease: a systematic review of this unrecognized disease in pediatrics. Pediatr Rheumatol Online J 2016; 14 (1): 18. doi: 10.1186/s12969-016-0079-3.

7. Geyer JT, Niesvizky R, Jayabalan DS et al. IgG4 plasma cell myeloma: new insights into the pathogenesis of IgG4-related disease. Mod Pathol 2014; 27 (3): 375–381. doi: 10.1038/modpathol.2013.159.

8. Mattoo H, Mahajan VS, Maehara T et al. Clonal expansion of CD4 (+) cytotoxic T lymphocytes in patients with IgG4-related disease. J Allergy Clin Immunol 2016; 138 (3): 825–838. doi: 10.1016/j.jaci.2015.12.1330.

9. Carruthers MN, Park S, Slack GW et al. IgG4-related disease and lymphocyte-variant hypereosinophilic syndrome: a comparative case series. Eur J Haematol 2017; 98 (4): 378–387. doi: 10.1111/ejh.12842.

10. Mattoo H, Stone JH, Pillai S. Clonally expanded cytotoxic CD4 (+) T cells and the pathogenesis of IgG4-related disease. Autoimmunity 2017; 50 (1): 19–24. doi: 10.1080/08916934.2017.1280029.

11. Hubers LM, Vos H, Schuurman AR et al. Annexin A11 is targeted by IgG4 and IgG1 autoantibodies in IgG4-related disease. Gut 2018; 67 (4): 728–735. doi: 10.1136/gutjnl-2017-314548.

12. Perugino CA, AlSalem SB, Mattoo H et al. Identification of galectin-3 as an autoantigen in patients with IgG4-related disease. J Allergy Clin Immunol 2019; 143 (2): 736–745. doi: 10.1016/j.jaci.2018.05.011.

13. Wallace ZS, Deshpande V, Mattoo H et al. IgG4-related disease: clinical and laboratory features in one hundred twenty-five patients. Arthritis Rheumatol 2015; 67 (9): 2466–2475. doi: 10.1002/art.39205.

14. Yamada K, Yamamoto M, Saeki T et al. New clues to the nature of immunoglobulin G4-related disease: a retrospective Japanese multicenter study of baseline clinical features of 334 cases. Arthritis Res Ther 2017; 19 (1): 262. doi: 10.1186/s13075-017-1467-x.

15. Wick MR, O’Malley DP. Lymphadenopathy associated with IgG4-related disease: diagnosis & differential diagnosis. Semin Diagn Pathol 2018; 35 (1): 61–66. doi: 10.1053/j.semdp.2017.11.006.

16. Grados A, Ebbo M, Boucrat J et a. Serum immunoglobulin free light chain assessment in IgG4 related disease. Int J Rheumatol 2013; 2013: 426759. doi: 10.1155/2013/426759.

17. Della Torre E, Mattoo H, Mahajan VS et al. Prevalence of atopy, eosinophilia, and IgE elevation in IgG4-related disease. Allergy 2014; 69 (2): 269–272. doi: 10.1111/all.12320.

18. Gotlib J. World Health Organization-defined eosinophilic disorders: 2017 update on diagnosis, risk stratification, and management. Am J Hematol 2017; 92 (11): 1243–1259. doi: 10.1002/ajh.24880.

19. Dispenzieri A, Gertz MA, Therneau TM et al. Retrospective cohort study of 148 patients with polyclonal gammopathy. Mayo Clin Proc 2001; 76 (5): 476–487. doi: 10.4065/76.5.476.

20. Chen LY, Mattman A, Seidman M et al. IgG4-related disease: what a hematologist needs to know. Haematologica 2019; 104 (3): 444–445. doi: 10.3324/haematol.2018.205526.

21. Engelhart S, Glynn RJ, Schur PH. Disease associations with isolated elevations of each of the four IgG subclasses. Semin Arthritis Rheum 2017; 47 (2): 276–280. doi: 10.1016/j.semarthrit.2017.03.021.

22. Zhang X, Hyjek E, Vardiman J. A subset of Rosai-Dorfman disease exhibits features of IgG4-related disease. Am J Clin Pathol 2013; 139 (5): 622–632. doi: 10.1309/AJCPARC3YQ0KLIOA.

23. Abla O, Jacobsen E, Picarsic J et al. Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease. Blood 2018; 131 (26): 2877–2890. doi: 10.1182/blood-2018-03-839753.

24. Bledsoe JR, Wallace ZS, Stone JH et al. Lymphomas in IgG4-related disease: clinicopathologic features in a Western population. Virchows Arch 2017; 472 (5): 839–852. doi: 10.1007/s00428-017-2286-9.

25. Carruthers MN, Khosroshahi A, Augustin T et al. The diagnostic utility of serum IgG4 concentrations in IgG4-related disease. Ann Rheum Dis 2015; 74 (1): 14–18. doi: 10.1136/annrheumdis-2013-204907.

26. Qi R, Chen LY, Park S et al. Utility of serum IgG4 levels in a multiethnic population. Am J Med Sci 2018; 355 (1): 61–66. doi: 10.1016/j.amjms.2017.08.014.

27. van der Gugten G, DeMarco ML, Chen LY et al. Resolution of spurious immunonephelometric IgG subclass measurement discrepancies by LC-MS/MS. Clin Chem 2018; 64 (4): 735–742. doi: 10.1373/clinchem.2017.282319.

28. Wallace ZS, Mattoo H, Carruthers M et al. Plasmablasts as a biomarker for IgG4-related disease, independent of serum IgG4 concentrations. Ann Rheum Dis 2015; 74 (1): 190–195. doi: 10.1136/annrheumdis-2014-205233.

29. Chari ST, Takahashi N, Levy MJ et al. A diagnostic strategy to distinguish autoimmune pancreatitis from pancreatic cancer. Clin Gastroenterol Hepatol 2009; 7 (10): 1097–1103. doi: 10.1016/j.cgh.2009.04.020.

30. Mann S, Seidman MA, Barbour SJ et al. Recognizing IgG4-related tubulointerstitial nephritis. Can J Kidney Health Dis 2016; 3: 34. doi: 10.1186/s40697-016-0126-5.

31. Moriyama M, Ohta M, Furukawa S et al. The diagnostic utility of labial salivary gland biopsy in IgG4-related disease. Mod Rheumatol 2016; 26 (5): 725–729. doi: 10.3109/14397595.2016.1148225.

32. Wallace ZS, Naden RP, Chari S et al. The 2019 American College of Rheumatology/European League Against Rheumatism classification criteria for IgG4-related disease. Ann Rheum Dis 2020; 79 (1): 77–87. doi: 10.1136/annrheumdis-2019-216561.

33. Wallace ZS, Naden RP, Chari S et al. The 2019 American College of Rheumatology/European League Against Rheumatism classification criteria for IgG4-related disease. Arthritis Rheumatol 2020; 72 (1): 7–19. doi: 10.1002/art.41120.

34. Ebbo M, Grados A, Guedj E et al. Usefulness of 2-[18F]-fluoro-2-deoxy-D-glucose-positron emission tomography/computed tomography for staging and evaluation of treatment response in IgG4-related disease: a retrospective multicenter study. Arthritis Care Res (Hoboken) 2014; 66 (1): 86–96. doi: 10.1002/acr.22058.

35. Khosroshahi A, Wallace ZS, Crowe JL. International consensus guidance statement on the management and treatment of IgG4-related disease. Arthritis Rheumatol 2015; 67 (7): 1688–1699. doi: 10.1002/art.39132.

36. Masaki Y, Matsui S, Saeki T et al. A multi-center phase II prospective clinical trial of glucocorticoid for patients with untreated IgG4-related disease. Mod Rheumatol 2017; 27 (5): 849–854. doi: 10.1080/14397595.2016.1259602.

37. Wang L, Zhang P, Wang M et al. Failure of remission induction by glucocorticoids alone or in combination with immunosuppressive agents in IgG4-related disease: a prospective study of 215 patients. Arthritis Res Ther 2018; 20 (1): 65. doi: 10.1186/s13075-018-1567-2.

38. Masamune A, Nishimori I, Kikuta K et al. Randomised controlled trial of long-term maintenance corticosteroid therapy in patients with autoimmune pancreatitis. Gut 2017; 66 (3): 487–494. doi: 10.1136/gutjnl-2016-312049.

39. Hart PA, Topazian MD, Witzig TE et al. Treatment of relapsing autoimmune pancreatitis with immunomodulators and rituximab: the Mayo Clinic experience. Gut 2013; 62 (11): 1607–1615. doi: 10.1136/gutjnl-2012-302886.

40. Yunyun F, Yu C, Panpan Z et al. Efficacy of cyclophosphamide treatment for immunoglobulin G4-related disease with addition of glucocorticoids. Sci Rep 2017; 7 (1): 6195. doi: 10.1038/s41598-017-06520-5.

41. Yunyun F, Yu P, Panpan Z et al. Efficacy and safety of low dose mycophenolate mofetil treatment for immunoglobulin G4-related disease: a randomized clinical trial. Rheumatology (Oxford) 2019; 58 (1): 52–60. doi: 10.1093/rheumatology/key227.

42. Yunyun F, Yu Ch, Panpan Z et al. Efficacy of cyclophosphamide treatment for immunoglobulin G4-related disease with addition of glucocorticoids. Sci Rep 2017; 7 (1): 6195. doi: 10.1038/s41598-017-06520-5.

43. Carruthers MN, Topazian MD, Khosroshahi A et al. Rituximab for IgG4-related disease: a prospective, open-label trial. Ann Rheum Dis 2015; 74 (6): 1171–1177. doi: 10.1136/annrheumdis-2014-206605.

44. Guo Y, Ansdell D, Brouha S et al. Coronary periarteritis in a patient with multi-organ IgG4-related disease. J Radiol Case Rep 2015; 9 (1): 1–17. doi: 10.3941/jrcr.v9i1.1967.

45. Kamisawa T, Nakazawa T, Tazuma S et al. Clinical practice guidelines for IgG4-related sclerosing cholangitis. J Hepatobiliary Pancreat Sci 2019; 26 (1): 9–42. doi: 10.1002/jhbp.596.

46. San S, Lin CD, Tsai ST et al. Immunoglobulin G4-related disease presented as recurrent otitis media and mixed hearing loss treated with cyclophosphamide and rituximab: a case report. Arch Rheumatol 2018; 34 (2): 233–237. doi: 10.5606/ArchRheumatol.2019.7178.

47. Ebbo M, Grados A, Samson M et al. Long-term efficacy and safety of rituximab in IgG4-related disease: data from a French nationwide study of thirty-three patients. PLoS One 2017; 12 (9): e0183844. doi: 10.1371/journal.pone.0183844.

48. Gu WJ, Zhang Q, Zhu J et. al. Rituximab was used to treat recurrent IgG4-related hypophysitis with ophthalmopathy as the initial presentation: a case report and literature review. Medicine (Baltimore) 2017; 96 (24): e6934. doi: 10.1097/MD.0000000000006934.

49. Mochizuki H, Kato M, Higuchi T et al. Overlap of IgG4-related disease and multicentric Castleman‘s disease in a patient with skin lesions. Intern Med 2017; 56 (9): 1095–1099. doi: 10.2169/internalmedicine.56.8013.

50. Aouidad I, Schneider P, Zmuda M et al. IgG4-related disease with orbital pseudotumors treated with rituximab combined with palpebral surgery. JAMA Dermatol 2017; 153 (3): 355–356. doi: 10.1001/jamadermatol.2016.4854.

51. Wallace ZS, Mattoo H, Mahajan VS et al. Predictors of disease relapse in IgG4-related disease following rituximab. Rheumatology (Oxford) 2016; 55 (6): 1000–1008. doi: 10.1093/rheumatology/kev438.

52. Berta AI, Agaimy A, Braun JM et al. Bilateral orbital IgG4-related disease with systemic and corneal involvement showing an excellent response to steroid and rituximab therapy: report of a case with 11 years follow-up. Orbit 2015; 34 (5): 299–301. doi: 10.3109/01676830.2015.1057290.

53. McMahon BA, Novick T, Scheel PJ et al. Rituximab for the treatment of igG4-related tubulointerstitial nephritis: case report and review of the literature. Medicine (Baltimore) 2015; 94 (32): e1366. doi: 10.1097/MD.0000000000001366.

54. Gillispie MC, Thomas RD, Hennon TR. Successful treatment of IgG-4 related sclerosing disease with rituximab: a novel case report. Clin Exp Rheumatol 2015; 33 (4): 549–550.

55. Yamamoto M, Awakawa T, Takahashi H. Is rituximab effective for IgG4-related disease in the long term? Experience of cases treated with rituximab for 4 years. Ann Rheum Dis 2015; 74 (8): e46. doi: 10.1136/annrheumdis-2015-207625.

56. Wu A, Andrew NH, Tsirbas A et al. Rituximab for the treatment of IgG4-related orbital disease: experience from five cases. Eye (Lond) 2015; 29 (1): 122–128. doi: 10.1038/eye.2014.251.

57. Savino G, Battendieri R, Siniscalco A et al. Intraorbital injection of rituximab in idiopathic orbital inflammatory syndrome: case reports. Rheumatol Int 2015; 35 (1): 183–188. doi: 10.1007/s00296-014-3054-7.

58. Chen TS, Figueira E, Lau OC et al. Successful „medical“ orbital decompression with adjunctive rituximab for severe visual loss in IgG4-related orbital inflammatory disease with orbital myositis. Ophthalmic Plast Reconstr Surg 2014; 30 (5): e122–e125. doi: 10.1097/IOP.0b013e3182a64fa4.

59. Jalilian C, Prince HM, McCormack C et al. IgG4-related disease with cutaneous manifestations treated with rituximab: case report and literature review. Australas J Dermatol 2014; 55 (2): 132–136. doi: 10.1111/ajd.12100.

60. Caso F, Fiocco U, Costa L et al. Successful use of rituximab in a young patient with immunoglobulin G4-related disease and refractory scleritis. Joint Bone Spine 2014; 81 (2): 190–192. doi: 10.1016/j.jbspin.2013.07.011.

61. Murakami J, Matsui S, Ishizawa S et al. Recurrence of IgG4-related disease following treatment with rituximab. Mod Rheumatol 2013; 23 (6): 1226–1230. doi: 10.1007/s10165-012-0738-2.

62. Khosroshahi A, Carruthers MN, Deshpande V et al. Rituximab for the treatment of IgG4-related disease: lessons from 10 consecutive patients. Medicine (Baltimore) 2012; 91 (1): 57–66. doi: 10.1097/MD.0b013e3182431ef6.

63. Khosroshahi A, Bloch DB, Deshpande V et al. Rituximab therapy leads to rapid decline of serum IgG4 levels and prompt clinical improvement in IgG4-related systemic disease. Arthritis Rheum 2010; 62 (6): 1755–1762. doi: 10.1002/art.27435.

64. Khan ML, Colby TV, Viggiano RW et al. Treatment with bortezomib of a patient having hyper IgG4 disease. Clin Lymphoma Myeloma Leuk 2010; 10 (3): 217–219. doi: 10.3816/CLML.2010.n.034.

65. Kottler D, Barète S, Quéreux G et al. Retrospective multicentric study of 25 Kimura disease patients: emphasis on therapeutics and shared features with cutaneous IgG4-related disease. Dermatology 2015; 231 (4): 367–377. doi: 10.1159/000439346.

66. Kobayashi H, Shimokawaji T, Kanoh S et al. IgG4-positive pulmonary disease. J Thorac Imaging 2007; 22 (4): 360–362. doi: 10.1097/RTI.0b013e31813fab9f.

67. Jalaj S, Dunbar K, Campbell A et al. Treatment of pediatric IgG4-related orbital disease with TNF- inhibitor. Ophthalmic Plast Reconstr Surg 2018; 34 (1): e10–e12. doi: 10.1097/IOP.0000000000000959.

68. Kashiwagi N, Enoki E, Hosokawa C et al. 18F-FDG PET/CT features of chronic sclerosing sialadenitis presenting as localized IgG4-related disease. Clin Nucl Med 2017; 42 (2): 131–132. doi: 10.1097/RLU.0000000000001482.

69. Fu Z, Liu M, Zhang J et al. IgG4-related renal lesions detected by delayed 18F-FDG PET/CT scan. Clin Nucl Med 2017; 42 (1): 66–67. doi: 10.1097/RLU.0000000000001427.

70. Ichiki A, Hashimoto N, Ueda T et al. IgG4-related disease with bone marrow involvement. Intern Med 2016; 55 (16): 2295–2299. doi: 10.2169/internalmedicine.55.6749.

71. Lee J, Hyun SH, Kim S et al. Utility of FDG PET/CT for differential diagnosis of patients clinically suspected of IgG4-related disease. Clin Nucl Med 2016; 41 (5): e237–e243. doi: 10.1097/RLU.0000000000001153.

72. Zhao Z, Wang Y, Guan Z et al. Utility of FDG-PET/CT in the diagnosis of IgG4-related diseases. Clin Exp Rheumatol 2016; 34 (1): 119–125.

73. Lauwyck J, Piette Y, Van Walleghem L et al. IgG4-related disease: The utility of (18) F-FDG PET/CT in diagnosis and treatment. Hell J Nucl Med 2015; 18 (Suppl 1): 155–159.

74. Zhang J, Chen H, Ma Y et al. Characterizing IgG4-related disease with ¹⁸F-DG PET/CT: a prospective cohort study. Eur J Nucl Med Mol Imaging 2014; 41 (8): 1624–1634. doi: 10.1007/s00259-014-2729-3.

75. Kase S, Ishijima K, Uraki T et al. Usefulness of flow cytometry in diagnosis of IgG4-related ophthalmic disease and extranodal marginal zone B-cell lymphoma of the ocular adnexa. Anticancer Res 2017; 37 (9): 5001–5004. doi: 10.21873/anticanres.11913.

76. Lin W, Zhang P, Chen H et al. Circulating plasmablasts/plasma cells: a potential biomarker for IgG4-related disease. Arthritis Res Ther 2017; 19 (1): 25. doi: 10.1186/s13075-017-1231-2.

77. Mikulicz J. Über eine eigenartige symmetrishe erkrankung der Tranen und Mundspeicheldrüsen. Stuttgart: Beitr Chir Festschr Theodor Billroth 1892: 610–630.