Tumor necrosis factor (TNF) receptor associated periodic syndrome (TRAPS): a rare cause of recurrent fever
DOI:
https://doi.org/10.18203/2320-6012.ijrms20182852Keywords:
Anakinra, Auto-inflammatory syndromes fever, Etanercept, TRAPS, Tumour necrosis factor receptor-associated periodic syndrome, TNF, TNFRSF1A, Periodic feverAbstract
The one year old male child presented with fever on and off, associated with periorbital swelling and arthritis. Infectious, rheumatological and oncological diagnoses were ruled out. Further follow-up over 4-5 years revealed that, the child continued to have similar episodes every month and investigated for almost all possible causes but no conclusive diagnosis was made. Hence evaluation for rare causes of periodic fever was considered. Genetic testing revealed mutation in a novel variant of TNFRSF1A gene, thus confirming Tumor necrosis factor receptorassociated periodic syndrome (TRAPS). Tumor necrosis factor receptorassociated periodic syndrome (TRAPS) is an autosomal dominant inherited condition of periodic fever and joint pain. Here we are presenting a case of this rare syndrome.
References
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 Apr 2;97(1):133-44.
McDermott EM, Smillie DM, Powell RJ. Clinical spectrum of familial Hibernian fever. Mayo Clin Pro. 1997;72:806-17.
Cassidy JT, Petty RE, Laxer RM, Lindsley CB. Periodic fever syndromes in children. Textbook of Pediatric Rheumatology. Elsevier Saunders. Philadelphia, 2005;5.
Bodar EJ, Drenth JPH, van der Meer JSM, Simon A. Dysregulation of innate immunity: hereditay periodic fever syndromes. Br J Haematol. 2009;144: 279-302.
Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, et al. Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol. 2008;28:73-83.
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. 2002 Sep 1;81(5):349-68.
Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheumatology. 2003 Sep 1;48(9):2632-44.
D'osualdo A, Ferlito F, Prigione I, Obici L, Meini A, Zulian F, et al. Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. Arthritis Rheumatol. 2006 Mar 1;54(3):998-1008.
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. 2003 Feb 1;42(2):235-9.
Drewe E, Powell RJ, McDermott EM. Comment on: failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology (Oxford). 2007;46:1865-6.
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;46:1211-2.
Simon A, Bodar EJ, van der Hilst JC, van der Meer JW, Fiselier TJ, Cuppen MP, et al. Beneficial response to interleukin 1 receptor antagonist in TRAPS. Am J Med. 2004;117:208-10.
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;58:1516-20.