TNF receptor associated periodic syndrome: Difference between revisions
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{{SK}} TRAPS; familial Hibernian fever | {{SK}} TRAPS; familial Hibernian fever; FHF; | ||
==Overview== | ==Overview== | ||
'''TNF receptor associated periodic syndrome''' (also known as '''TRAPS''' or '''familial Hibernian fever''') is a [[periodic fever syndrome]] associated with mutations in a [[Receptor (biochemistry)|receptor]] for the molecule [[Tumor necrosis factors|tumor necrosis factor]] (TNF) that is inheritable in an [[autosomal dominant]] manner. Individuals with TRAPS have episodic symptoms such as recurrent high [[fevers]], [[rash]], [[abdominal pain]], joint/muscle aches and puffy eyes. TRAPS was first described in 1982 in a boy of Scottish-Irish origin. At that time, it was named familial Hibernian fever. | '''TNF receptor-associated periodic syndrome''' (also known as '''TRAPS''' or '''familial Hibernian fever''') is a [[periodic fever syndrome]] associated with mutations in a [[Receptor (biochemistry)|receptor]] for the molecule [[Tumor necrosis factors|tumor necrosis factor]] (TNF) that is inheritable in an [[autosomal dominant]] manner. Individuals with TRAPS have episodic symptoms such as recurrent high [[fevers]], [[rash]], [[abdominal pain]], joint/muscle aches and puffy eyes. TRAPS was first described in 1982 in a boy of Scottish-Irish origin. At that time, it was named familial Hibernian fever. | ||
The main source of TNF is cells in the [[immune system]] called [[macrophage]]s which produce it in response to infection and other stimuli. TNF helps activate other immune cells and plays a major role in the initiation of [[inflammation]]. Individuals with TRAPS have a mutation in the [[CD120|tumor necrosis factor receptor-1]] (TNFR1) [[gene]]. The mechanisms by which mutations in TNFR1 lead to the TRAPS [[phenotype]] are still under investigation. | The main source of TNF is cells in the [[immune system]] called [[macrophage]]s which produce it in response to infection and other stimuli. TNF helps activate other immune cells and plays a major role in the initiation of [[inflammation]]. Individuals with TRAPS have a mutation in the [[CD120|tumor necrosis factor receptor-1]] (TNFR1) [[gene]]. The mechanisms by which mutations in TNFR1 lead to the TRAPS [[phenotype]] are still under investigation. | ||
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Several medications have been studied for the treatment of TRAPS including [[etanercept]], [[infliximab]]<ref>Church LD, Churchman SM, Hawkins PN, McDermott MF. ''Hereditary auto-inflammatory disorders and biologics.'' Springer Semin Immunopathol. 2006 Jun;27(4):494-508. Epub 2006 May 4. PMID 16738958</ref>, [[tacrolimus]]<ref>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 Jun 26; PMID 16801330</ref> and Il-1Ra ([[anakinra]])<ref>Gattorno M, Pelagatti MA, Meini A, Obici L, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58:1516-1520. PMID 18438813</ref>. Studies on treatment efficacy in a larger group of patients affected with TRAPS are however lacking to date. | Several medications have been studied for the treatment of TRAPS including [[etanercept]], [[infliximab]]<ref>Church LD, Churchman SM, Hawkins PN, McDermott MF. ''Hereditary auto-inflammatory disorders and biologics.'' Springer Semin Immunopathol. 2006 Jun;27(4):494-508. Epub 2006 May 4. PMID 16738958</ref>, [[tacrolimus]]<ref>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 Jun 26; PMID 16801330</ref> and Il-1Ra ([[anakinra]])<ref>Gattorno M, Pelagatti MA, Meini A, Obici L, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58:1516-1520. PMID 18438813</ref>. Studies on treatment efficacy in a larger group of patients affected with TRAPS are however lacking to date. | ||
==Historical Perspective== | ==Historical Perspective== | ||
*TNF receptor-associated periodic syndrome was first described by Dr. Williamson in 1982 in an Irish-Scottish family affected by an autosomal dominant pattern disorder.<ref>{{Cite journal | |||
| author = [[L. M. Williamson]], [[D. Hull]], [[R. Mehta]], [[W. G. Reeves]], [[B. H. Robinson]] & [[P. J. Toghill]] | |||
The association between | | title = Familial Hibernian fever | ||
| journal = [[The Quarterly journal of medicine]] | |||
| volume = 51 | |||
| issue = 204 | |||
| pages = 469–480 | |||
| year = 1982 | |||
| month = | |||
| pmid = 7156325 | |||
}}</ref> | |||
*The association between the TNFRSF1A gene locus and TNF receptor-associated periodic syndrome was made in 1998.<ref name="McDermottOgunkolade1998">{{cite journal|last1=McDermott|first1=Michael F.|last2=Ogunkolade|first2=B. William|last3=McDermott|first3=Elizabeth M.|last4=Jones|first4=Lisa C.|last5=Wan|first5=Ying|last6=Quane|first6=Kathleen A.|last7=McCarthy|first7=John|last8=Phelan|first8=Mark|last9=Molloy|first9=Michael G.|last10=Powell|first10=Richard J.|last11=Amos|first11=Christopher I.|last12=Hitman|first12=Graham A.|title=Linkage of Familial Hibernian Fever to Chromosome 12p13|journal=The American Journal of Human Genetics|volume=62|issue=6|year=1998|pages=1446–1451|issn=00029297|doi=10.1086/301886}}</ref> | |||
In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name]. | In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name]. | ||
Revision as of 14:50, 19 June 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: TRAPS; familial Hibernian fever; FHF;
Overview
TNF receptor-associated periodic syndrome (also known as TRAPS or familial Hibernian fever) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable in an autosomal dominant manner. Individuals with TRAPS have episodic symptoms such as recurrent high fevers, rash, abdominal pain, joint/muscle aches and puffy eyes. TRAPS was first described in 1982 in a boy of Scottish-Irish origin. At that time, it was named familial Hibernian fever.
The main source of TNF is cells in the immune system called macrophages which produce it in response to infection and other stimuli. TNF helps activate other immune cells and plays a major role in the initiation of inflammation. Individuals with TRAPS have a mutation in the tumor necrosis factor receptor-1 (TNFR1) gene. The mechanisms by which mutations in TNFR1 lead to the TRAPS phenotype are still under investigation.
Several medications have been studied for the treatment of TRAPS including etanercept, infliximab[1], tacrolimus[2] and Il-1Ra (anakinra)[3]. Studies on treatment efficacy in a larger group of patients affected with TRAPS are however lacking to date.
Historical Perspective
- TNF receptor-associated periodic syndrome was first described by Dr. Williamson in 1982 in an Irish-Scottish family affected by an autosomal dominant pattern disorder.[4]
- The association between the TNFRSF1A gene locus and TNF receptor-associated periodic syndrome was made in 1998.[5]
In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
There have been several outbreaks of [disease name], including -----.
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].
Classification
There is no established system for the classification of TNF receptor associated periodic syndrome.
Pathophysiology
TNF receptor associated periodic syndrome is an autosomal dominannt inherited disorder due to mutation in the TNFRSF1A gene, coding for type 1 TNF receptor.[6]
Differentiating ((Page name)) from Other Diseases
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
Epidemiology and Demographics
Natural History, Complications, and Prognosis
History and Symptoms
The hallmark of TNF-a receptor-associated periodic syndrome is recurrent fever episodes lasting 1 to 4 weeks or more. Fever is accompanied by other symptoms including but not limited to, skin rash, body pain, abdominal pain, and periorbital edema.
References
- ↑ Church LD, Churchman SM, Hawkins PN, McDermott MF. Hereditary auto-inflammatory disorders and biologics. Springer Semin Immunopathol. 2006 Jun;27(4):494-508. Epub 2006 May 4. PMID 16738958
- ↑ 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 Jun 26; PMID 16801330
- ↑ Gattorno M, Pelagatti MA, Meini A, Obici L, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58:1516-1520. PMID 18438813
- ↑ 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.
- ↑ 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.
- ↑ 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
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