TNF receptor associated periodic syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

Synonyms and Keywords: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS); Familial Hibernian fever; FHF; Familial Caledonian fever

Overview

TNF receptor-associated periodic syndrome (also known as TRAPS or familial Hibernian fever) is a periodic fever syndrome associated with mutation in a receptor for the molecule tumor necrosis factor (TNF). Since this disease first described in Ireland, it was called Hibernian fever in reference to the ancient Latin name for Ireland, Hibernia.

Historical Perspective

Classification

  • There is no established system for the classification of TNF receptor associated periodic syndrome.

Pathophysiology

Differentiating TNF receptor associated periodic syndrome from Other Diseases

Epidemiology and Demographics

  • This disorder is the second most common inflammatory disorder after familial mediterranean fever (FMF).
  • The incidence/prevalence of TNF receptor associated periodic syndrome is approximately 0.06 per 100,000 individuals of 16 years of age or younger worldwide.[9]
  • Approximately, 1000 cases have been reported worldwide.[10]
  • TNF receptor associated periodic syndrome commonly affects individuals of 3 years of age. However, due to overlap of the symptoms with other disorders and possible misdiagnosis, it may be diagnosed in adolescence or adulthood. In addition, the variants with low penetrance tend to manifest later in the adult life.[11]
  • Although more common in children, reports of patients developing TRAPS in old age are available.[12]
  • Although, first described in Ireland, this disorder has also been reported in other countries. However, it is especially common in Western countries rather than Asian countries.[13][14][15]

Risk Factors

  • There are no established risk factors for TNF receptor associated periodic syndrome.

Screening

  • There is insufficient evidence to recommend routine screening for TNF receptor-associated periodic syndrome.

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

Presence Score
Periorbital oedema 21
Duration of episodes >6 days 19
Migratory rash 18
Myalgia 6
Reletavies affected 7
Absence Score
Vomiting 14
Aphthous stomatitis 15

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

  • There are no ECG findings associated with TNF receptor-associated periodic syndrome.

X-ray

  • There are no x-ray findings associated with TNF receptor-associated periodic syndrome.

Echocardiography or Ultrasound

CT scan

MRI

  • There are no MRI findings associated with TNF receptor-associated periodic syndrome.

Other Imaging Findings

  • There are no other imaging findings associated with TNF receptor-associated periodic syndrome.

Other Diagnostic Studies

  • There are no other diagnostic studies associated with TNF receptor-associated periodic syndrome.

Treatment

Medical Therapy

  • Several medications have been studied for the treatment of TRAPS including high dose corticosteroids, etanercept, and infliximab.[15]
  • Response to the aforementioned treatment options reported to be different in different cases.
  • Etanercept has been reported to effectively reduce the severity of attacks as well as the risk of amyloidosis development.[19]

Surgery

  • Surgical intervention is not recommended for the management of TNF receptor-associated periodic syndrome.

Primary Prevention

  • There are no established measures for the primary prevention of TNF receptor-associated periodic syndrome.

Secondary Prevention

  • There are no established measures for the secondary prevention of TNF receptor-associated periodic syndrome.

References

  1. L. M. Williamson, D. Hull, R. Mehta, W. G. Reeves, B. H. Robinson & P. J. Toghill (1982). "Familial Hibernian fever". The Quarterly journal of medicine. 51 (204): 469–480. PMID 7156325.
  2. McDermott, Michael F.; Ogunkolade, B. William; McDermott, Elizabeth M.; Jones, Lisa C.; Wan, Ying; Quane, Kathleen A.; McCarthy, John; Phelan, Mark; Molloy, Michael G.; Powell, Richard J.; Amos, Christopher I.; Hitman, Graham A. (1998). "Linkage of Familial Hibernian Fever to Chromosome 12p13". The American Journal of Human Genetics. 62 (6): 1446–1451. doi:10.1086/301886. ISSN 0002-9297.
  3. Weyhreter, Heike; Schwartz, Marianne; Kristensen, Tim D.; Valerius, Niels H.; Paerregaard, Anders (2003). "A new mutation causing autosomal dominant periodic fever syndrome in a Danish family". The Journal of Pediatrics. 142 (2): 191–193. doi:10.1067/mpd.2003.15. ISSN 0022-3476.
  4. M. F. McDermott, I. Aksentijevich, J. Galon, E. M. McDermott, B. W. Ogunkolade, M. Centola, E. Mansfield, M. Gadina, L. Karenko, T. Pettersson, J. McCarthy, D. M. Frucht, M. Aringer, Y. Torosyan, A. M. Teppo, M. Wilson, H. M. Karaarslan, Y. Wan, I. Todd, G. Wood, R. Schlimgen, T. R. Kumarajeewa, S. M. Cooper, J. P. Vella, C. I. Amos, J. Mulley, K. A. Quane, M. G. Molloy, A. Ranki, R. J. Powell, G. A. Hitman, J. J. O'Shea & D. L. Kastner (1999). "Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes". Cell. 97 (1): 133–144. PMID 10199409. Unknown parameter |month= ignored (help)
  5. Nedjai, Belinda; Hitman, Graham A.; Yousaf, Nasim; Chernajovsky, Yuti; Stjernberg-Salmela, Susanna; Pettersson, Tom; Ranki, Annamari; Hawkins, Philip N.; Arkwright, Peter D.; McDermott, Michael F.; Turner, Mark D. (2008). "Abnormal tumor necrosis factor receptor I cell surface expression and NF-κB activation in tumor necrosis factor receptor–associated periodic syndrome". Arthritis & Rheumatism. 58 (1): 273–283. doi:10.1002/art.23123. ISSN 0004-3591.
  6. D'Osualdo, Andrea; Ferlito, Francesca; Prigione, Ignazia; Obici, Laura; Meini, Antonella; Zulian, Francesco; Pontillo, Alessandra; Corona, Fabrizia; Barcellona, Roberto; Duca, Marco Di; Santamaria, Giuseppe; Traverso, Francesco; Picco, Paolo; Baldi, Maurizia; Plebani, Alessandro; Ravazzolo, Roberto; Ceccherini, Isabella; Martini, Alberto; Gattorno, Marco (2006). "Neutrophils from patients withTNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications". Arthritis & Rheumatism. 54 (3): 998–1008. doi:10.1002/art.21657. ISSN 0004-3591.
  7. Churchman, S M; Church, L D; Savic, S; Coulthard, L R; Hayward, B; Nedjai, B; Turner, M D; Mathews, R J; Baguley, E; Hitman, G A; Gooi, H C; Wood, P M D; Emery, P; McDermott, M F (2007). "A novel TNFRSF1A splice mutation associated with increased nuclear factor  appaB (NF- B) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS)". Annals of the Rheumatic Diseases. 67 (11): 1589–1595. doi:10.1136/ard.2007.078667. ISSN 0003-4967.
  8. Simon, A.; Park, H.; Maddipati, R.; Lobito, A. A.; Bulua, A. C.; Jackson, A. J.; Chae, J. J.; Ettinger, R.; de Koning, H. D.; Cruz, A. C.; Kastner, D. L.; Komarow, H.; Siegel, R. M. (2010). "Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome". Proceedings of the National Academy of Sciences. 107 (21): 9801–9806. doi:10.1073/pnas.0914118107. ISSN 0027-8424.
  9. Lainka, E.; Neudorf, U.; Lohse, P.; Timmann, C.; Stojanov, S.; Huss, K.; von Kries, R.; Niehues, T. (2009). "Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics". Rheumatology. 48 (8): 987–991. doi:10.1093/rheumatology/kep140. ISSN 1462-0324.
  10. "TRAPS - Genetics Home Reference - NIH".
  11. 11.0 11.1 11.2 Cantarini, L.; Iacoponi, F.; Lucherini, O.M.; Obici, L.; Brizi, M.G.; Cimaz, R.; Rigante, D.; Benucci, M.; Sebastiani, G.D.; Brucato, A.; Sabadini, L.; Simonini, G.; Giani, T.; Pasini, F. Laghi; Baldari, C.T.; Bellisai, F.; Valentini, G.; Bombardieri, S.; Paolazzi, G; Galeazzi, M. (2011). "Validation of a Diagnostic Score for the Diagnosis of Autoinflammatory Diseases in Adults". International Journal of Immunopathology and Pharmacology. 24 (3): 695–702. doi:10.1177/039463201102400315. ISSN 0394-6320.
  12. Sinožić, Dean; Toplak, Nataša; Milotić, Irena (2011). "Tumor Necrosis Factor Receptor-Associated Periodic Fever Syndrome in a 58-Year-Old Man". Journal of Clinical Rheumatology. 17 (6): 325–328. doi:10.1097/RHU.0b013e31822e092c. ISSN 1076-1608.
  13. 13.0 13.1 Aksentijevich, Ivona; Galon, Jérôme; Soares, Miguel; Mansfield, Elizabeth; Hull, Keith; Oh, Hye-Hyun; Goldbach-Mansky, Raphaela; Dean, Jane; Athreya, Balu; Reginato, Antonio J.; Henrickson, Michael; Pons-Estel, Bernardo; O’Shea, John J.; Kastner, Daniel L. (2001). "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". The American Journal of Human Genetics. 69 (2): 301–314. doi:10.1086/321976. ISSN 0002-9297.
  14. 14.0 14.1 Quintero, Javier; Saba, Jihan; Garcia, Carlos (2019). "Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome: Case Report and Review of an Auto-inflammatory Disorder". Cureus. doi:10.7759/cureus.3916. ISSN 2168-8184.
  15. 15.0 15.1 15.2 15.3 15.4 Chen, Yun-Ju; Yu, Hsin-Hui; Yang, Yao-Hsu; Lau, Yu-Lung; Lee, Wen-I; Chiang, Bor-Luen (2014). "Recurrent abdominal pain as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in an Asian girl: A case report and review of the literature". Journal of Microbiology, Immunology and Infection. 47 (6): 550–554. doi:10.1016/j.jmii.2012.07.003. ISSN 1684-1182.
  16. Aganna, Ebun; Hammond, Linda; Hawkins, Philip N.; Aldea, Anna; McKee, Shane A.; van Amstel, Hans Kristian Ploos; Mischung, Claudia; Kusuhara, Koichi; Saulsbury, Frank T.; Lachmann, Helen J.; Bybee, Alison; McDermott, Elizabeth M.; La Regina, Micaela; Arostegui, Juan I.; Campistol, Josep M.; Worthington, Sharron; High, Kevin P.; Molloy, Michael G.; Baker, Nicholas; Bidwell, Jeff L.; Castañer, José L.; Whiteford, Margo L.; Janssens-Korpola, P. L.; Manna, Raffaele; Powell, Richard J.; Woo, Patricia; Solis, Pilar; Minden, Kirsten; Frenkel, Joost; Yagüe, Jordi; Mirakian, Rita M.; Hitman, Graham A.; McDermott, Michael F. (2003). "Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes". Arthritis & Rheumatism. 48 (9): 2632–2644. doi:10.1002/art.11215. ISSN 0004-3591.
  17. Hoffman, Hal M.; Simon, Anna (2009). "Recurrent febrile syndromes—what a rheumatologist needs to know". Nature Reviews Rheumatology. 5 (5): 249–256. doi:10.1038/nrrheum.2009.40. ISSN 1759-4790.
  18. Federici, Silvia; Sormani, Maria Pia; Ozen, Seza; Lachmann, Helen J; Amaryan, Gayane; Woo, Patricia; Koné-Paut, Isabelle; Dewarrat, Natacha; Cantarini, Luca; Insalaco, Antonella; Uziel, Yosef; Rigante, Donato; Quartier, Pierre; Demirkaya, Erkan; Herlin, Troels; Meini, Antonella; Fabio, Giovanna; Kallinich, Tilmann; Martino, Silvana; Butbul, Aviel Yonatan; Olivieri, Alma; Kuemmerle-Deschner, Jasmin; Neven, Benedicte; Simon, Anna; Ozdogan, Huri; Touitou, Isabelle; Frenkel, Joost; Hofer, Michael; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco (2015). "Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers". Annals of the Rheumatic Diseases. 74 (5): 799–805. doi:10.1136/annrheumdis-2014-206580. ISSN 0003-4967.
  19. Drewe, Elizabeth; McDermott, Elizabeth M.; Powell, Richard J. (2000). "Treatment of the Nephrotic Syndrome with Etanercept in Patients with the Tumor Necrosis Factor Receptor–Associated Periodic Syndrome". New England Journal of Medicine. 343 (14): 1044–1045. doi:10.1056/NEJM200010053431412. ISSN 0028-4793.



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