Skip to main content
SpringerLink
Log in

Mediterranean fever gene-associated enterocolitis in an elderly Japanese woman

  • Case Report
  • Published:
Clinical Journal of Gastroenterology Aims and scope Submit manuscript

Abstract

An 86-year-old woman was admitted to our hospital with anemia. She had never experienced symptoms of serositis. Colonoscopy revealed colitis with erosions and a friable mucosa. First, she was diagnosed with unclassified inflammatory bowel disease (IBD-U). We suspected familial Mediterranean fever as a differential diagnosis of IBD-U, and MEFV gene analysis showed heterozygosity for Exon2 R202Q. The patient was treated with colchicine 0.5 mg. After 4 months, a follow-up colonoscopy showed remarkable improvement of the mucosal inflammation throughout the entire colon. MEFV gene-associated enterocolitis responding to colchicine may be observed in patients with IBD-U and elucidating the role of MEFV gene mutations in intestinal inflammation is a future challenge.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

Abbreviations

FMF:

Familial Mediterranean fever

IBD:

Inflammatory bowel disease

IBD-U:

Unclassified inflammatory bowel disease

MEFV:

Mediterranean fever

UC:

Ulcerative colitis

References

  1. Migita K, Yuce A, Demir H, et al. Familial Mediterranean fever: overview of pathogenesis, clinical features and management. Dig Dis Sci. 2010;55:3488–94.

    Article  Google Scholar 

  2. Wu B, Xu T, Li Y, et al. Interventions for reducing inflammation in familial Mediterranean fever. Cochrane Database Syst Rev. 2018;10:CD010893.

    PubMed  Google Scholar 

  3. Migita K, Izumi Y, Jiuchi Y, et al. Familial Mediterranean fever is no longer a rare disease in Japan. Arthritis Res Ther. 2016;18:175.

    Article  Google Scholar 

  4. de Torre-Minguela C, Mesa Del Castillo P, Pelegrin P. The NLRP3 and pyrin inflammasomes: implications in the pathophysiology of autoinflammatory diseases. Front Immunol. 2017;8:43.

    PubMed  PubMed Central  Google Scholar 

  5. Charles A, Dinarello MD. Interleukin-1β and the autoinflammatory diseases. New England J Med. 2009;360:2467–70.

    Article  Google Scholar 

  6. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40:1879–85.

    Article  CAS  Google Scholar 

  7. Migita K, Uehara R, Nakamura Y, et al. Familial Mediterranean fever in Japan. Medicine (Baltimore). 2012;91:337–43.

    Article  Google Scholar 

  8. Ryan JG, Masters SL, Booty MG, et al. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein. Ann Rheum Dis. 2010;69:1383–8.

    Article  CAS  Google Scholar 

  9. Ben-Chetrit E, Peleg H, Aamar S, et al. The spectrum of MEFV clinical presentations—is it familial Mediterranean fever only? Rheumatology (Oxford). 2009;48:1455–9.

    Article  Google Scholar 

  10. Gucenmez OA, Kume T, Makay B, et al. Role of fecal calprotectin in the assessment of intestinal inflammation in children with familial Mediterranean fever. Int J Rheum Dis. 2018;21:1844–8.

    Article  CAS  Google Scholar 

  11. Sari I, Birlik M, Kasifoglu T. Familial Mediterranean fever: an updated review. Eur J Rheumatol. 2014;1:21–33.

    Article  Google Scholar 

  12. Higashiyama M, Sugita A, Koganei K, et al. Correction to: management of elderly ulcerative colitis in Japan. J Gastroenterol. 2019;54:936–7.

    Article  Google Scholar 

  13. Saito D, Hibi N, Ozaki R, et al. MEFV gene-related enterocolitis account for some cases diagnosed as inflammatory bowel disease unclassified. Digestion. 2020;101:785–93.

    Article  CAS  Google Scholar 

  14. Fujimoto K, Hidaka Y, Koga T, et al. Clinical and genetic analysis of 22 Japanese patients with familial Mediterranean fever: an examination of MEFV and 10 other genes related to autoinflammatory syndromes. Intern Med. 2020;59:1373–8.

    Article  CAS  Google Scholar 

  15. Asakura K, Yanai S, Nakamura S, et al. Familial Mediterranean fever mimicking Crohn disease: a case report. Medicine (Baltimore). 2018;97:9547.

    Article  Google Scholar 

  16. Arasawa S, Nakase H, Ozaki Y, et al. Mediterranean mimicker. Lancet. 2012;380:2052.

    Article  Google Scholar 

  17. Demir A, Akyuz F, Gokturk S, et al. Small bowel mucosal damage in familial Mediterranean fever: results of capsule endoscopy screening. Scand J Gastroenterol. 2014;49:1414–8.

    Article  Google Scholar 

  18. Esaki M, Kawano S, Matsumoto T. Rare cause of duodenojejunal pseudopolyposis: report of a case of adult-onset familial Mediterranean fever. Dig Endosc. 2017;29:394–5.

    Article  Google Scholar 

  19. Yokoyama Y, Yamakawa T, Ichimiya T, et al. Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn’s disease: a case report. Clin J Gastroenterol. 2021;14:1103-7.

    Article  Google Scholar 

  20. Agin M, Tumgor G, Kont A, et al. Endoscopic findings in patients with familial Mediterranean fever and dyspeptic symptoms. Prz Gastroenterol. 2018;13:234–41.

    PubMed  PubMed Central  Google Scholar 

  21. Ozturk MA, Kanbay M, Kasapoglu B, et al. Therapeutic approach to familial Mediterranean fever: a review update. Clin Exp Rheumatol. 2011;29:S77-86.

    PubMed  Google Scholar 

  22. Sargin G, Kose R, Senturk T. Anti-interleukin-1 treatment among patients with familial Mediterranean fever resistant to colchicine treatment. Retrospective analysis. Anal Sao Paulo Med J. 2019;137:39–44.

    Article  Google Scholar 

Download references

Acknowledgements

This study was supported by the AMED (grant number 19ek0410057h0001), JSPS KAKENHI (grant number 18H02799). HN is supported by the Uehara Memorial Foundation, a Bristol–Myers Squibb research grant, and The Japanese Foundation for Research and Promotion of Endoscopy Grant.

Author information

Authors and Affiliations

  1. Department of Gastroenterology, Keiyukai Dai 2 Hospital, Sapporo, Japan

    Yasuhiro Shibata

  2. Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, S1, W16, Chuo-ku, Sapporo, 060-8543, Japan

    Yasuhiro Shibata, Keisuke Ishigami, Tomoe Kazama, Toshiyuki Kubo, Hiro-o Yamano & Hiroshi Nakase

  3. Department of Gastroenterology, Sapporo Shirakabadai Hospital, Sapporo, Japan

    Toshiyuki Kubo

  4. Department of Surgical Pathology, Sapporo Medical University School of Medicine, Sapporo, Japan

    Shintaro Sugita

  5. Department of Surgical Pathology, Tokeidai Memorial Hospital, Sapporo, Japan

    Masaki Murata

Authors
  1. Yasuhiro Shibata
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Keisuke Ishigami
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Tomoe Kazama
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Toshiyuki Kubo
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hiro-o Yamano
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Shintaro Sugita
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Masaki Murata
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Hiroshi Nakase
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Keisuke Ishigami.

Ethics declarations

Conflict of interest

None of the authors have conflicts of interest to declare for this article.

Human/animal rights

All procedures followed have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendment.

Informed consent

Written Informed consent was obtained from the patient.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Shibata, Y., Ishigami, K., Kazama, T. et al. Mediterranean fever gene-associated enterocolitis in an elderly Japanese woman. Clin J Gastroenterol 14, 1661–1666 (2021). https://doi.org/10.1007/s12328-021-01497-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12328-021-01497-1

Keywords

Search

Navigation