TNF receptor associated periodic syndrome: Difference between revisions
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*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> | *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] | ||
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name]. | In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name]. | ||
==Classification== | ==Classification== | ||
There is no established system for the classification of TNF receptor associated periodic syndrome. | There is no established system for the classification of TNF receptor associated periodic syndrome. | ||
==Pathophysiology== | ==Pathophysiology== | ||
TNF receptor associated periodic syndrome is an autosomal dominannt inherited disorder due to mutation in the TNF Receptor Super Family 1A (TNFRSF1A) gene.<ref>{{Cite journal | *TNF receptor associated periodic syndrome is an autosomal dominannt inherited disorder due to mutation in the TNF Receptor Super Family 1A (TNFRSF1A) gene.<ref>{{Cite journal | ||
| author = [[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]] | | author = [[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]] | ||
| title = Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes | | title = Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes | ||
| Line 50: | Line 45: | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
==Diagnosis== | |||
===Diagnostic Study of Choice=== | |||
*Diagnosis is based on the clinical features. In 2017, Eurofever registry developed a set of criteria for the diagnosis of the four major periodic fever syndromes. Table below is the diagnostic criteria for TRAPS. | |||
{| border="3" | |||
|+ | |||
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Presence}} !! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Score}} | |||
|- | |||
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |Periorbital oedema | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |21 | |||
|- | |||
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |Duration of episodes >6 days | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |19 | |||
|- | |||
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |Migratory rash | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |18 | |||
|- | |||
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |Myalgia | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |6 | |||
|- | |||
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |Reletavies affected | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |7 | |||
|- | |||
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Absence}} !! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Score}} | |||
|- | |||
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |Vomiting | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |14 | |||
|- | |||
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |Aphthous stomatitis | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |15 | |||
|} | |||
===History and Symptoms=== | ===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. | 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. | ||
| Line 55: | Line 80: | ||
{{reflist|2}} | {{reflist|2}} | ||
{{OMIM|142680}} | {{OMIM|142680}} | ||
[[Category:Rheumatology]] | [[Category:Rheumatology]] | ||
[[fr:TNF receptor associated periodic syndrome]] | [[fr:TNF receptor associated periodic syndrome]] | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Revision as of 19:04, 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], [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 TNF Receptor Super Family 1A (TNFRSF1A) gene.[6]
- Mutation in the gene is associated with abnormally structured TNF receptor which leads to impaired TNF-a binding and subsequent abnormal function of this factor in apoptosis and NF-κB pathway. However, the exact mechanisms causing febrile episodes remain to be cleared.[7][8][9]
- Another hypothese is that mutation in the gene results in intracellular accumulation of the receptor. This abnormal accumulation of the receptor leads to an exaggerated inflammatory response to low levels of innate stimuli such as lipopolysaccharide (LPS).[10]
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
Diagnosis
Diagnostic Study of Choice
- Diagnosis is based on the clinical features. In 2017, Eurofever registry developed a set of criteria for the diagnosis of the four major periodic fever syndromes. Table below is the diagnostic criteria for TRAPS.
| 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
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
|month=ignored (help) - ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
Online Mendelian Inheritance in Man (OMIM) 142680 Template:WH Template:WS