The differential diagnosis of Erdheim-Chester disease and IgG4-related diseases


Cite item

Full Text

Abstract

The paper describes Russia’s first diagnosed case of Erdheim—Chester disease (systemic histiocytosis) in a 65-year-old man who has been long treated for Ormond’s disease (idiopathic retroperitoneal fibrosis). It also gives the data available in the literature on the pathogenetic components of these diseases and on the similarity of many clinical, laboratory, and morphological characteristics of these two immunoinflammatory diseases and covers the issues of their differential diagnosis. Invasive procedures with a careful morphological/immunomorphological examination of biopsy specimens obtained from affected tissues are shown to be necessary for accurate diagnosis.

References

  1. Сhester W. Über lipoid Granulomatose. Virchows Archiv für pathologische Anatomie und Physiologie und für klinische Medizin. 1930;279(2):561-602. doi: 10.1007/BF01942684.
  2. Erdheim-Chester Disease Global Alliance Available at: http://erdheim-chester.org/
  3. Mazor R, Manevich-Mazor M, Kesler A, Aizenstein O, Eshed I, Jaffe R, Pessach Y, Goldberg I, Sprecher E, Yaish I, Gural A, Ganzel C, Shoenfeld Y. Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: a seven case series. BMC Medicine. 2014;12:221-239. doi: 10.1186/s12916-014-0221-3.
  4. Campochiaro C, Tomelleri A, Cavalli G, Berti A, Dagna L. Erdheim-Chester disease. Eur J Int Med. 2015;26:223-229. doi: 10.1016/j.ejim.2015.03.004.
  5. Munoz J, Janku F, Cohen PR, Kuiziock R. Erdheim-Chester disease: characteristics and management. Mayo Clinic Proceedings. 2014;89:985-996. doi: 10.1016/j.mayocp.2014.01.023.
  6. Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, Ferrarini M, Abdel-Wahab O, Heaney ML, Scheel PJ, Feeley NK, Ferrero E, McClain KL, Vaglio A, Colby T, Arnaud L, Haroche J. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124:483-492. doi: 10.1182/blood-2014-03-561381.
  7. Chetritt J, Paradis V, Dargere D, Adle-Biassette H, Maurage C, Mussini J, Vital A, Wechsler J, Bedossa P. Chester-Erdheim disease: a neoplastic disorder. Human Pathol. 1999;30(9):1093-1096. doi: 10.1016/S0046-8177(99)90228-9.
  8. Gong L, He XL, Li Y, Ren K, Zhang L, Liu X, Han X, Yao L, Zhu S, Lan M, Zhang W. Clonal status and clinicopathological feature of Erdheim-Chester disease. Pathology - Research and Practice. 2009;205(9):601-607. doi: 10.1016/j.prp.2009.02.004.
  9. Stoppacciaro A, Ferrarini M, Salmaggi C, Colarossi C, Praderio L, Tresoldi M, Beretta A, Sabbadini M. Immunochistochemical evidence of a cytokine and chemokine network in three patients with Erdheim-Chester disease: implications for pathogenesis. Arthritis Rheum. 2006;54(12):4018-4022. doi: 10.1002/art.22280.
  10. Zhang W. BRAF inhibitors: the current and the future. Curr Opin Pharmacol. 2015;23:68-73. doi: 10.1016/j.coph.2015.05.015.
  11. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA. Mutations of the BRAF gene in human cancer. Nature. 2002;417:949-954. doi: 10.1038/nature00766.
  12. Badalian-Very G, Vergilio J, Degar BA, MacConaill L, Brandner B, Calicchio M, Kuo F, Ligon A, Stevenson K, Kehoe S, Garraway L, Hahn W, Meyerson M, Fleming M, Rollins B. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116(11):1919-1923. doi: 10.1182/blood-2010-04-279083.
  13. Haroche J, Charlotte F, Arnaud L, von Deimling A, Hélias-Rodzewicz Z, Hervier B, Cohen-Aubart F, Launay D, Lesot A, Mokhtari K, Canioni D, Galmiche L, Rose C, Schmalzing M, Croockewit S, Kambouchner M, Copin MC, Fraitag S, Sahm F, Brousse N, Amoura Z, Donadieu J, Emile JF. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012:120(13):2700-2703. doi: 10.1182/blood-2012-05-430140.
  14. Cangi MG, Biavasco R, Cavalli G, Grassini G, Dal-Cin E, Campochiaro C, Guglielmi B, Berti A, Lampasona V, von Deimling A, Sabbadini MG, Ferrarini M, Doglioni C, Dagna L. BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease. Ann Rheum Dis. 2015;74(8):1596-1602. doi: 10.1136/annrheumdis-2013-204924.
  15. Diamond EL, Abdel-Wahab O, Pentsova E, Borsu L, Chiu A, Teruya-Feldstein J, Hyman DM, Rosenblum M. Detection of an NRAS mutation in Erdheim-Chester disease. Blood. 2013;122(6):1089-1091. doi: 10.1182/blood-2013-02-482984.
  16. Haroche J, Cohen-Aubart F, Emile JF, Maksud P, Drier A, Tolédano D, Barete S, Charlotte F, Cluzel P, Donadieu J, Benameur N, Grenier PA, Besnard S, Ory JP, Lifermann F, Idbaih A, Granel B, Graffin B, Hervier B, Arnaud L, Amoura Z. Reproducible and Sustained Efficacy of Targeted Therapy With Vemurafenib in Patients With BRAFV600E -Mutated Erdheim-Chester Disease. J Clin Oncol. 2015;33(5):411-418. doi: 10.1200/JCO.2014.57.1950.
  17. Umehara H, Okazaki K, Masaki Y, Kawano M, Yamamoto M, Saeki T, Matsui S, Sumida T, Mimori T, Tanaka Y, Tsubota K, Yoshino T, Kawa S, Suzuki R, Takegami T, Tomosugi N, Kurose N, Ishigaki Y, Azumi A, Kojima M, Nakamura S, Inoue D. A novel clinical entity, IgG4-related disease (IgG4RD): general concept and details. Modern Rheumatol. 2012;22:1-14. doi: 10.1007/s10165-011-0508-6.
  18. Deshpande V. The pathology of IgG4-related disease: critical issues and challenges. Semin Diagn Pathol. 2012;29:191-196. doi: 10.1053/j.semdp.2012.08.001.
  19. Zen Y, Nakamura Y. IgG4-related disease: a cross-sectional study of 114 cases. Am J Surg Pathol. 2010;34:1812-1819. doi: 10.1097/PAS.0b013e3181f7266b.
  20. Mahajan VS, Mattoo H, Deshpande V, Pillai SS, Stone JH. IgG4-Related Disease. Ann Rev Pathol. 2014;9:315-347. doi: 10.1146/annurev-pathol-012513-104708.
  21. Stone JH, Patel VI, Olivera GR, Stone JR. Case records of the Massachutts General Hospital. Case 38-2012. A 60-year-old man with abdominal pain and aortic aneurysms. New Engl J Med. 2012;367(24):2335-2346. doi: 10.1056/NEJMcpc1209330.
  22. Stone JH. Mechanisms of disease.IgG4-Related disease. New Engl J Med. 2012;366:539-551. doi: 10.1056/NEJMra1104650.
  23. Kamisawa T, Anjiki H, Egawa N, Kubota N. Allergic manifestations in autoimmune pancreatitis. Eur J Gastroenterol Hepatol. 2009;21:1136-1139. doi: 10.1097/MEG.0b013e3283297417.
  24. Zen Y, Fujii T,Harada K, Kawano M, Yamada K, Takahira M, Nakanuma Y. Th2 and regulatory immune reactions are increased in immunoglobin G4-related sclerosing pancreatitis and cholangitis. Hepatology. 2007;45:1538-1546. doi: 10.1002/hep.21697.
  25. Kanari H, Kagami S, Kashiwakuma D, Oya Y, Furuta S, Ikeda K, Suto A, Suzuki K, Hirose K, Watanabe N, Okamoto Y, Yamamoto S, Iwamoto I, Nakajima H. Role of Th2 cells in IgG4-related lacrimal gland enlargement. Int Arch Allergy Immunol. 2010;152(suppl 1):47-53. doi: 10.1159/000312125.
  26. Detlefsen S, Sipos B, Zhao J, Drewes AM, Klöppel G. Autoimmune pancreatitis: expression and cellular source of profibrotic cytokines and their receptors. Am J Surg Pathol. 2008;32:986-995. doi: 10.1097/PAS.0b013e31815d2583.
  27. Miyoshi H, Uchida K, Taniguchi T, Yazumi S, Matsushita M, Takaoka M, Okazaki K. Circulating naïve and CD4+CD25high regulatory T cells in patients with autoimmune pancreatitis. Pancreas. 2008;36:133-140. doi: 10.1097/MPA.0b013e3181577553.
  28. Stone JH, Khosroshahi A, Deshpande V, Chan JK, Heathcote JG, Aalberse R, Azumi A, Bloch DB, Brugge WR, Carruthers MN, Cheuk W, Cornell L, Castillo CF, Ferry JA, Forcione D, Klöppel G, Hamilos DL, Kamisawa T, Kasashima S, Kawa S, Kawano M, Masaki Y, Notohara K, Okazaki K, Ryu JK, Saeki T, Sahani D, Sato Y, Smyrk T, Stone JR, Takahira M, Umehara H, Webster G, Yamamoto M, Yi E, Yoshino T, Zamboni G, Zen Y, Chari S. 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.
  29. Васильев В.И., Пальшина С.Г., Симонова М.В., Логвиненко О.А., Седышев С.Х., Митриков Б.В., Пробатова Н.А., Кокосадзе Н.В., Сафонова Т.Н., Александрова Е.Н., Насонов Е.Л. Первый опыт использования Ритуксимаба в терапии болезни Микулича. Терапевтический архив. 2010;82(6):62-66.
  30. Седышев С.Х., Васильев В.И., Ковригина А.М., Логвиненко О.А., Родионова Е.Б., Сафонова Т.Н., Гайдук И.В., Силин А.Ю., Комов Д.В., Насонов Е.Л. Заболевание, связанное с IgG4: характеристика группы больных и терапия ритуксимабом. Терапевтический архив. 2013;2:48-53.
  31. Khosroshahi A, Carrthers MN, Deshpande V, Unizony S, Bloch DB, Stone JH. Rituximab for the treatment of IgG4-related disease: lessons from 10 consecutive patients. Medicine (Baltimore). 2012;91:57-66. doi: 10.1097/MD.0b013e3182431ef6.
  32. Amaud L, Harvier B, Neel A, Hamidou MA, Kahn JE, Wechsler B, Pérez-Pastor G, Blomberg B, Fuzibet JG, Dubourguet F, Marinho A, Magnette C, Noel V, Pavic M, Casper J, Beucher AB, Costedoat-Chalumeau N, Aaron L, Salvatierra J, Graux C, Cacoub P, Delcey V, Dechant C, Bindi P, Herbaut C, Graziani G, Amoura Z, Haroche J. CNS involvement and treatment with interferon-α are independent prognosis factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117(10):2778-2782. doi: 10.1182/blood-2010-06-294108.
  33. Raina A, Yadav D, Krasinskas AM, McGrath KM, Khalid A, Sanders M, Whitcomb DC, Slivka A. Evaluation and management of autoimmune pancreatitis: experience at a large US center. Am J Gastroenterol. 2009;104:2295-2306. doi: 10.1038/ajg.2009.325.
  34. Masaki Y, Dong L, Kurose N, Kitagawa K, Morikawa Y, Yamamoto M, Takahashi H, Shinomura Y, Imai K, Saeki T, Azumi A, Nakada S, Sugiyama E, Matsui S, Origuchi T, Nishiyama S, Nishimori I, Nojima T, Yamada K, Kawano M, Zen Y, Kaneko M, Miyazaki K, Tsubota K, Eguchi K, Tomoda K, Sawaki T, Kawanami T, Tanaka M, Fukushima T, Sugai S, Umehara H. Proposal for a new clinical entity, IgG4-positive multiorgan lymphoproliferative syndrome: analysis of 64 cases of IgG4-related disorders. Ann Rheum Dis. 2009;68:1310-1315. doi: 10.1136/ard.2008.089169.
  35. Bасильев В.И., Сокол Е.В., Родионова Е.Б., Пальшина С.Г., Александрова Е.Н., Раденска-Лоповок С.Г., Пробатова Н.А., Кокосадзе Н.В., Ковригина А.М., Сафонова Т.Н., Боровская А.Б., Гайдук И.В. Связанные с IgG4-поражения слюнных желез. Терапевтический архив. 2015;8:92-102.
  36. Wallace ZS, Deshpande V, Stone JH. Ophthalmic manifestations of IgG4-related disease: Single-center experience and literature review. Semin Arthritis Rheum. 2014;43:806-817. doi: 10.1016/j.semarthrit.2013.11.008.
  37. Kermani TA, Crowson CS, Achenbach SJ, Luthra HS. Idiopathic Retroperitoneal Fibrosis: A Retrospective Review of Clinical Presentation, Treatment, and Outcomes. Mayo Clinic Proceedings. 2011;86(14):297-303. doi: 10.4065/mcp.2010.0663.
  38. Yamamoto M, Tabeya T, Naishiro Y, Yajima H, Ishigami K, Shimizu Y, Obara M, Suzuki C, Yamashita K, Yamamoto H, Hayashi T, Sasaki S, Sugaya T, Ishida T, Takano K, Himi T, Suzuki Y, Nishimoto N, Honda S, Takahashi H, Imai K, Shinomura Y. Value of serum IgG4 in the diagnosis of IgG4-related disease and differentiation from rheumatic disease and other diseases. Modern Rheumatol. 2012;22:419-425. doi: 10.1007/s10165-011-0532-6.
  39. Strehl JD, Hartman A, Agaimy A. Numerous IgG4-positive plasma cells are ubiquitous in diverse localized non-specific chronic inflammatory conditions and need to be distinguished from IgG4-related systemic disorders. J Clin Pathol. 2011;64:237-243. doi: 10.1136/jcp.2010.085613.
  40. Alan A, McKelvie P. IgG4-Related Ophthalmic Disease. Part I: Background and Pathology. Ophthalmic Plastic and Reconstructive Surgery. 2015;31(2):83-88. doi: 10.1097/IOP.0000000000000363.
  41. Alan A, McKelvie P. IgG4-Related Ophthalmic Disease. Part II: Clinical Aspects. Ophthalmic Plastic and Reconstructive Surgery. 2015;20(20):1-12. doi: 10.1097/IOP.0000000000000364.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2016 Consilium Medicum

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
 

Address of the Editorial Office:

  • Novij Zykovskij proezd, 3, 40, Moscow, 125167

Correspondence address:

  • Alabyan Street, 13/1, Moscow, 127055, Russian Federation

Managing Editor:

  • Tel.: +7 (926) 905-41-26
  • E-mail: e.gorbacheva@ter-arkhiv.ru

 

 © 2018-2021 "Consilium Medicum" Publishing house


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies