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Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site

  • Case Report
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Modern Rheumatology

Abstract

We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours would benefit from treatment considering her father’s severe course of disease. The relevant literature on this problem is reviewed.

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References

  1. Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005;17(5):586–99.

    Article  CAS  PubMed  Google Scholar 

  2. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade 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(1):133–44.

    Article  CAS  PubMed  Google Scholar 

  3. Hull KM, 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 (Baltimore). 2002;81(5):349–68.

    Article  CAS  Google Scholar 

  4. Kriegel M, Hueffmeier U, Scherb E, Scheidig C, Geiler T, Kalden J, et al. Tumor necrosis factor receptor associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis. Arthritis Rheum. 2003;48(8):2386–8.

    Article  CAS  PubMed  Google Scholar 

  5. Trost S, Rose CD. Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome. J Rheumatol. 2005;32(1):175–7.

    PubMed  Google Scholar 

  6. Ida H, Aramaki T, Arima K, Origuchi T, Kawakami A, Eguchi K. Successful treatment using tacrolimus (FK506) in a patient with TNF receptor-associated periodic syndrome (TRAPS) complicated by monocytic fasciitis. Rheumatology (Oxford). 2006;45(9):1171–3.

    Article  CAS  Google Scholar 

  7. 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  CAS  PubMed  Google Scholar 

  8. Hurst M, Hull K, Nicholls D, Ameratunga R. Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis 1. J Clin Rheumatol. 2005;11(6):329–30.

    Article  PubMed  Google Scholar 

  9. Kallinich T, Haffner D, Rudolph B, Schindler R, Canaan-Kuhl S, Keitzer R, et al. “Periodic fever” without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis. Ann Rheum Dis. 2006;65(7):958–60.

    Article  CAS  PubMed  Google Scholar 

  10. Cigni A, Ledda F, Satta AE. A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes. J Nephrol. 2006;19(4):543–9.

    CAS  PubMed  Google Scholar 

  11. Marie I, Herve F, Dode C, Bernet J, Levesque H. Intestinal pseudo-obstruction as a manifestation of tumor necrosis factor receptor-associated periodic syndrome 1. Dig Dis Sci. 2006;51(6):1061–2.

    Article  PubMed  Google Scholar 

  12. Minden K, Aganna E, McDermott MF, Zink A. Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement. Ann Rheum Dis. 2004;63(10):1356–7.

    Article  CAS  PubMed  Google Scholar 

  13. Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford). 2003;42(2):235–9.

    Article  CAS  Google Scholar 

  14. Savage T, Loftus BG, Tormey V, McDermott MF, Moylett E. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant. J Clin Rheumatol. 2008;14(6):342–5.

    Article  PubMed  Google Scholar 

  15. Drewe E, Huggins ML, Morgan AG, Cassidy MJ, Powell RJ. Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome. Rheumatology (Oxford). 2004;43(11):1405–8.

    Article  CAS  Google Scholar 

  16. Nowlan ML, Drewe E, Bulsara H, Esposito N, Robins RA, Tighe PJ, et al. Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1A. Rheumatology (Oxford). 2006;45(1):31–7.

    Article  CAS  Google Scholar 

  17. Jacobelli S, Andre M, Alexandra JF, Dode C, Papo T. Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology (Oxford). 2007;46(7):1211–2.

    Article  CAS  Google Scholar 

  18. Drewe E, Powell RJ, McDermott EM. Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology. 2007;46(12):1865–6.

    Article  CAS  PubMed  Google Scholar 

  19. Jesus AA, Oliveira JB, Aksentijevich I, Fujihira E, Carneiro-Sampaio MM, Duarte AJ, et al. TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept. Eur J Pediatr. 2008;167(12):1421–5.

    Article  PubMed  Google Scholar 

  20. Lamprecht P, Moosig F, Adam-Klages S, Mrowietz U, Csernok E, Kirrstetter M, et al. Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann Rheum Dis. 2004;63(11):1518–20.

    Article  CAS  PubMed  Google Scholar 

  21. Arostegui JI, Solis P, Aldea A, Cantero T, Rius J, Bahillo P, et al. Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response. Eur J Pediatr. 2005;164(1):13–6.

    Article  CAS  PubMed  Google Scholar 

  22. Drewe E, McDermott EM, Powell RJ. Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome. N Engl J Med. 2000;343(14):1044–5.

    Article  CAS  PubMed  Google Scholar 

  23. Church LD, Churchman SM, Hawkins PN, McDermott MF. Hereditary autoinflammatory disorders and biologics. Semin Immunopathol. 2006;27:494–508.

    Article  CAS  Google Scholar 

  24. Morbach H, Richl P, Stojanov S, Lohse P, Girschick HJ. Tumor necrosis factor receptor 1-associated periodic syndrome without fever: cytokine profile before and during etanercept treatment. Rheumatol Int 2009.

  25. Hull KM, Kastner DL, Balow JE. Hereditary periodic fever. N Engl J Med. 2002;346(18):1415–6.

    Article  PubMed  Google Scholar 

  26. Siebert S, Amos N, Lawson TM. Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology (Oxford). 2008;47(2):228–9.

    Article  CAS  Google Scholar 

  27. Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58(5):1516–20.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. University Clinic of Regensburg, Regensburg, Germany

    Petra Lehmann

  2. Department of Internal Medicine I, University Clinic of Regensburg, Regensburg, Germany

    Bernd Salzberger, Peter Haerle, Juergen Schoelmerich & Stephanie Rosenfeld

  3. National Institute of Health, Bethesda, MD, USA

    Ivona Aksentijevich & Daniel Kastner

  4. Kerckhoff-Klinik, Department of Rheumatology, Justus-Liebig-University, Giessen, Germany

    Ulf Mueller-Ladner

  5. Department of Internal Medicine I, University Medical Center Regensburg, Franz-Josef-Strauss-Allee 11, 93042, Regensburg, Germany

    Petra Lehmann

Authors
  1. Petra Lehmann
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  2. Bernd Salzberger
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  3. Peter Haerle
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  4. Ivona Aksentijevich
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  7. Stephanie Rosenfeld
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  8. Ulf Mueller-Ladner
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Correspondence to Petra Lehmann.

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Lehmann, P., Salzberger, B., Haerle, P. et al. Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site. Mod Rheumatol 20, 311–315 (2010). https://doi.org/10.1007/s10165-010-0273-y

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  • DOI: https://doi.org/10.1007/s10165-010-0273-y

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