Skip to main content
SpringerLink
Log in

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature

  • Review Article
  • Published:
Modern Rheumatology

An Erratum to this article was published on 14 February 2013

Abstract

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of fever attacks associated with rashes, abdominal pain, myalgia, conjunctivitis, chest pain, and arthralgia. Some patients have severe abdominal pain leading to abdominal surgery. Most reported cases of TRAPS involve patients of European ancestry, but there have been nine reports of patients with TRAPS in Japan. Here, we review these nine case reports. Reported TNFRSF1A gene mutations in these nine index patients were C70S, T61I, C70G, C30Y, C30R, N101K, and N25D. Fever (100 %) was seen in all 23 cases. Most patients developed rash (erythema) (84.6 %) and arthralgia (73.3 %), and half suffered from myalgia (54.5 %) and abdominal pain (50.0 %). Although one-half of the patients suffered from abdominal pain, none underwent surgery. In contrast, only a small percentage of patients suffered from chest pain (20.0 %), conjunctivitis (20.0 %), and headache (10.0 %). Almost all cases (95.7 %) concerned patients whose relatives suffered from periodic fever. These findings suggest that the clinical features of Japanese TRAPS patients may be milder than those of patients in Western countries.

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

Similar content being viewed by others

References

  1. Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial Hibernian fever. Q J Med. 1982;51:469–80.

    PubMed  CAS  Google Scholar 

  2. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Oqunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133–44.

    Article  PubMed  CAS  Google Scholar 

  3. Hull KH, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, et al. The TNF receptor-associated periodic syndrome (TRAPS), emerging concepts of an autoinflammatory disorder. Medicine. 2002;81:349–68.

    Article  PubMed  CAS  Google Scholar 

  4. Colburn N, Kastner D. Hereditary periodic fever. In: Hochberg MC, Silman AJ, Smolen JS, Weinbalatt ME, Weisman MH, editors. Rheumatology. 4th ed. Philadelphia: Elsevier; 2008. p. 1619–40.

    Google Scholar 

  5. Ida H, Eguchi K. TNF receptor-associated periodic syndrome (TRAPS) in Japan: clinical characterization, pathogenesis, diagnostic criteria, and treatment (in Japanese). Jpn J Clin Immunol. 2007;30(2):90–100.

    Article  Google Scholar 

  6. Tsukamoto H, Ueda N, Horiuchi T. Progress in classification and treatment for TNF receptor-associated periodic syndrome (in Japanese). Jpn J Clin Immunol. 2011;34(5):361–8.

    Article  Google Scholar 

  7. Lobito AA, Kimberley FC, Muppidi JR, Komorow H, Jackson AH, Hull KM, et al. Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutations in TNFR1-associated periodic fever syndrome (TRAPS). Blood. 2006;108:1320–7.

    Article  PubMed  CAS  Google Scholar 

  8. Simon A, Park H, Maddipati R, Lobito AA, Bulua AC, Jackson AJ, et al. Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proc Natl Acad Sci USA. 2010;107(21):9801–6.

    Article  PubMed  CAS  Google Scholar 

  9. Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype–phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet. 2001;69(2):301–14.

    Article  PubMed  CAS  Google Scholar 

  10. Stojanov S, McDermott MF. The tumor necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev Mol Med. 2005;7:1–18.

    Article  PubMed  Google Scholar 

  11. Pelagatti MA, Meini A, Caorsi R, Cattalini M, Federici S, Zulian F, et al. Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis Rheum. 2011;63(4):1141–50.

    Article  PubMed  CAS  Google Scholar 

  12. Horiuchi T, Tsukamoto H, Mitoma H, Miyagawa H, Tamimoto Y, Yoshizawa S, et al. Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese. Int J Mol Med. 2004;14:813–8.

    PubMed  CAS  Google Scholar 

  13. Takagi K, Kawaguchi Y, Fujikawa S, Otani T, Sugiura T, Hara M. Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese Family. Mod Rheumatol. 2007;17:265–6.

    Article  PubMed  Google Scholar 

  14. Kusuhara K, Nomura A, Nakao F, Hara T. Tumor necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. Eur J Pediatr. 2004;163:30–2.

    Article  PubMed  Google Scholar 

  15. Ida H, Kawasaki E, Miyashita T, Tanaka F, Kamachi M, Izumi Y, et al. A novel mutation (T61I) in the gene encoding tumor necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patients with tumor necrosis factor-associated with periodic syndrome (TRAPS) associated with systemic lupus erythematosus. Rheumatology (Oxford). 2004;43:1292–9.

    Article  CAS  Google Scholar 

  16. Manki A, Nishikomori R, Nakata-Hizume M, Kunitomi T, Takei S, Urakami T, et al. Tumor necrosis factor receptor-associated periodic syndrome mimicking systemic juvenile idiopathic arthritis. Allergol Int. 2006;55:337–41.

    Article  PubMed  CAS  Google Scholar 

  17. Nakamura M, Kobashi M, Tokura Y. A novel missense mutation in tumor necrosis factor receptor superfamily 1A (TNFRSF1A) gene found in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) manifesting adult-onset Still disease-like skin eruptions: report of a case and review of literature. Br J Dermatol. 2009;161:968–70.

    Article  PubMed  CAS  Google Scholar 

  18. Nakamura M, Tokura Y. A novel missense mutation in tumor necrosis factor receptor superfamily 1A (TNFRSF1A) gene found in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with high serum interleukin (IL)-22. Eur J Dermatol. 2010;20(4):508–9.

    PubMed  Google Scholar 

  19. Kai M, Tamaki S, Nishikomori R, Takaoka Y, Ohara O, Oshima K. A case of TNF receptor-associated periodic syndrome (in Japanese). Ryumachika (Rheumatology). 2011;45(4):456–60.

    Google Scholar 

  20. Ohmori S, Hino R, Nakamura M, Tokura Y. Heparin serves as a natural stimulant of the inflammasome and exacerbates the symptoms of tumor necrosis factor receptor-associated periodic syndrome (TRAPS). J Dermatol Sci. 2012;66:82–4.

    Article  PubMed  CAS  Google Scholar 

  21. Hull KM, Wong K, Wood GM, Chu WS, Kastner DL. Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction. Arthritis Rheum. 2002;46(8):2189–94.

    Article  PubMed  CAS  Google Scholar 

  22. Tsuchiya-Suzuki A, Yamazaki M, Nakamura A, Yamazaki K, Agematsu K, Matsuda M, et al. Clinical and genetic features of familial Mediterranean fever in Japan. J Rheumatol. 2009;36(8):1671–6.

    Article  PubMed  CAS  Google Scholar 

  23. Sasaki H, Heike T. Hyperimmunoglobulinemia D and periodic fever syndrome (in Japanese). Jpn J Clin Immunol. 2011;34(5):382–7.

    Article  Google Scholar 

  24. Sacré K, Brihaye B, Lidove O, Papo T, Pocidalo MA, Cuisset L, et al. Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy. J Rheumatol. 2008;35(2):357–8.

    PubMed  Google Scholar 

Download references

Acknowledgments

This work was supported in part by a Grant for Research on Intractable Disease from Japanese Ministry of Health, Labour and Welfare (Chief: Takahiko Horiuchi).

Conflict of interest

None.

Author information

Authors and Affiliations

  1. St. Mary’s College, 422 Tsubukuhonmachi, Kurume, Fukuoka, 830-8558, Japan

    Masakazu Washio

  2. St. Mary’s Hospital, Kurume, Fukuoka, Japan

    Teruaki Nakano

  3. Tokyo Women’s Medical University, Shinjuku-ku, Tokyo, Japan

    Yasushi Kawaguchi & Kae Takagi

  4. Kyushu University Graduate School of Medical Sciences, Higashi-ku, Fukuoka, Japan

    Chikako Kiyohara, Hiroshi Tsukamoto & Takahiko Horiuchi

  5. Kyushu University Hospital, Higashi-ku, Fukuoka, Japan

    Shoji Tokunaga

Authors
  1. Masakazu Washio
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Teruaki Nakano
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Yasushi Kawaguchi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Kae Takagi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Chikako Kiyohara
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Hiroshi Tsukamoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Shoji Tokunaga
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Takahiko Horiuchi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Masakazu Washio.

About this article

Cite this article

Washio, M., Nakano, T., Kawaguchi, Y. et al. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature. Mod Rheumatol 23, 210–217 (2013). https://doi.org/10.1007/s10165-012-0737-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10165-012-0737-3

Keywords

Search

Navigation