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{{SK}} [[Tumor necrosis factor receptor-associated periodic syndrome]] ([[Tumor necrosis factor receptor-associated periodic syndrome|TRAPS]]); [[Familial Hibernian fever]]; [[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 (biochemistry)|receptor]] for the [[molecule]] [[Tumor necrosis factors|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==
*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]]
| 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 2003, Dr. Weyhreter was the first to use [[etanercept]] (a [[fusion protein]] of the [[extracellular]] domain of TNFRSF1A and the [[Fc receptor|Fc]] portion of [[IgG]]1) for the treatment of TRAPS, which results successful [[treatment]] of the [[patient]].<ref name="WeyhreterSchwartz2003">{{cite journal|last1=Weyhreter|first1=Heike|last2=Schwartz|first2=Marianne|last3=Kristensen|first3=Tim D.|last4=Valerius|first4=Niels H.|last5=Paerregaard|first5=Anders|title=A new mutation causing autosomal dominant periodic fever syndrome in a Danish family|journal=The Journal of Pediatrics|volume=142|issue=2|year=2003|pages=191–193|issn=00223476|doi=10.1067/mpd.2003.15}}</ref>
==Classification==
*There is no established system for the [[classification]] of TNF receptor associated periodic syndrome.
==Pathophysiology==
*TNF receptor associated periodic syndrome is an [[autosomal dominant]] inherited [[disorder]] due to [[mutation]] in the  [[Tumor necrosis factor-alpha|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]]
| title = Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
| journal = [[Cell]]
| volume = 97
| issue = 1
| pages = 133–144
| year = 1999
| month = April
| pmid = 10199409
}}</ref>
*[[Mutation]] in the [[gene]] is associated with abnormally structured [[TNF receptor]] which leads to impaired [[TNF-alpha|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.<ref name="NedjaiHitman2008">{{cite journal|last1=Nedjai|first1=Belinda|last2=Hitman|first2=Graham A.|last3=Yousaf|first3=Nasim|last4=Chernajovsky|first4=Yuti|last5=Stjernberg-Salmela|first5=Susanna|last6=Pettersson|first6=Tom|last7=Ranki|first7=Annamari|last8=Hawkins|first8=Philip N.|last9=Arkwright|first9=Peter D.|last10=McDermott|first10=Michael F.|last11=Turner|first11=Mark D.|title=Abnormal tumor necrosis factor receptor I cell surface expression and NF-κB activation in tumor necrosis factor receptor–associated periodic syndrome|journal=Arthritis & Rheumatism|volume=58|issue=1|year=2008|pages=273–283|issn=00043591|doi=10.1002/art.23123}}</ref><ref name="D'OsualdoFerlito2006">{{cite journal|last1=D'Osualdo|first1=Andrea|last2=Ferlito|first2=Francesca|last3=Prigione|first3=Ignazia|last4=Obici|first4=Laura|last5=Meini|first5=Antonella|last6=Zulian|first6=Francesco|last7=Pontillo|first7=Alessandra|last8=Corona|first8=Fabrizia|last9=Barcellona|first9=Roberto|last10=Duca|first10=Marco Di|last11=Santamaria|first11=Giuseppe|last12=Traverso|first12=Francesco|last13=Picco|first13=Paolo|last14=Baldi|first14=Maurizia|last15=Plebani|first15=Alessandro|last16=Ravazzolo|first16=Roberto|last17=Ceccherini|first17=Isabella|last18=Martini|first18=Alberto|last19=Gattorno|first19=Marco|title=Neutrophils from patients withTNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications|journal=Arthritis & Rheumatism|volume=54|issue=3|year=2006|pages=998–1008|issn=0004-3591|doi=10.1002/art.21657}}</ref><ref name="ChurchmanChurch2007">{{cite journal|last1=Churchman|first1=S M|last2=Church|first2=L D|last3=Savic|first3=S|last4=Coulthard|first4=L R|last5=Hayward|first5=B|last6=Nedjai|first6=B|last7=Turner|first7=M D|last8=Mathews|first8=R J|last9=Baguley|first9=E|last10=Hitman|first10=G A|last11=Gooi|first11=H C|last12=Wood|first12=P M D|last13=Emery|first13=P|last14=McDermott|first14=M F|title=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)|journal=Annals of the Rheumatic Diseases|volume=67|issue=11|year=2007|pages=1589–1595|issn=0003-4967|doi=10.1136/ard.2007.078667}}</ref>
*Another hypotheses 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 [[Stimulant|stimuli]] such as  [[lipopolysaccharide]] ([[Lipopolysaccharide|LPS]]).<ref name="SimonPark2010">{{cite journal|last1=Simon|first1=A.|last2=Park|first2=H.|last3=Maddipati|first3=R.|last4=Lobito|first4=A. A.|last5=Bulua|first5=A. C.|last6=Jackson|first6=A. J.|last7=Chae|first7=J. J.|last8=Ettinger|first8=R.|last9=de Koning|first9=H. D.|last10=Cruz|first10=A. C.|last11=Kastner|first11=D. L.|last12=Komarow|first12=H.|last13=Siegel|first13=R. M.|title=Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome|journal=Proceedings of the National Academy of Sciences|volume=107|issue=21|year=2010|pages=9801–9806|issn=0027-8424|doi=10.1073/pnas.0914118107}}</ref>


'''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.
==Differentiating TNF receptor associated periodic syndrome from Other Diseases==
*TNF receptor associated periodic syndrome must be differentiated from other [[diseases]] that cause [[fever]], [[abdominal pain]], and [[arthritis]], such as [[infections]], other [[Periodic fever syndrome|autoinflammatory diseases]], and [[autoimmune disorders]].
*For more information on the [[differential diagnosis]] of TNF receptor associated periodic syndrome please [[Familial mediterranean fever differential diagnosis|click here]]


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 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.  
==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.<ref name="LainkaNeudorf2009">{{cite journal|last1=Lainka|first1=E.|last2=Neudorf|first2=U.|last3=Lohse|first3=P.|last4=Timmann|first4=C.|last5=Stojanov|first5=S.|last6=Huss|first6=K.|last7=von Kries|first7=R.|last8=Niehues|first8=T.|title=Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics|journal=Rheumatology|volume=48|issue=8|year=2009|pages=987–991|issn=1462-0324|doi=10.1093/rheumatology/kep140}}</ref>
*Approximately, 1000 cases have been reported worldwide.<ref>{{cite web |url=https://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome#sourcesforpage |title=TRAPS - Genetics Home Reference - NIH |format= |work= |accessdate=}}</ref>
*TNF receptor associated periodic syndrome commonly affects individuals of 3 years of age. However, due to overlap of the [[Symptom|symptoms]] with other [[disorders]] and possible [[misdiagnosis]], it may be [[Diagnose|diagnosed]] in adolescence or adulthood. In addition, the variants with low penetrance tend to manifest later in the adult life.<ref name="CantariniIacoponi2011">{{cite journal|last1=Cantarini|first1=L.|last2=Iacoponi|first2=F.|last3=Lucherini|first3=O.M.|last4=Obici|first4=L.|last5=Brizi|first5=M.G.|last6=Cimaz|first6=R.|last7=Rigante|first7=D.|last8=Benucci|first8=M.|last9=Sebastiani|first9=G.D.|last10=Brucato|first10=A.|last11=Sabadini|first11=L.|last12=Simonini|first12=G.|last13=Giani|first13=T.|last14=Pasini|first14=F. Laghi|last15=Baldari|first15=C.T.|last16=Bellisai|first16=F.|last17=Valentini|first17=G.|last18=Bombardieri|first18=S.|last19=Paolazzi|first19=G|last20=Galeazzi|first20=M.|title=Validation of a Diagnostic Score for the Diagnosis of Autoinflammatory Diseases in Adults|journal=International Journal of Immunopathology and Pharmacology|volume=24|issue=3|year=2011|pages=695–702|issn=0394-6320|doi=10.1177/039463201102400315}}</ref>
*Although more common in children, reports of patients developing TRAPS in old age are available.<ref name="SinožićToplak2011">{{cite journal|last1=Sinožić|first1=Dean|last2=Toplak|first2=Nataša|last3=Milotić|first3=Irena|title=Tumor Necrosis Factor Receptor-Associated Periodic Fever Syndrome in a 58-Year-Old Man|journal=Journal of Clinical Rheumatology|volume=17|issue=6|year=2011|pages=325–328|issn=1076-1608|doi=10.1097/RHU.0b013e31822e092c}}</ref>
*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.<ref name="AksentijevichGalon2001">{{cite journal|last1=Aksentijevich|first1=Ivona|last2=Galon|first2=Jérôme|last3=Soares|first3=Miguel|last4=Mansfield|first4=Elizabeth|last5=Hull|first5=Keith|last6=Oh|first6=Hye-Hyun|last7=Goldbach-Mansky|first7=Raphaela|last8=Dean|first8=Jane|last9=Athreya|first9=Balu|last10=Reginato|first10=Antonio J.|last11=Henrickson|first11=Michael|last12=Pons-Estel|first12=Bernardo|last13=O’Shea|first13=John J.|last14=Kastner|first14=Daniel L.|title=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|journal=The American Journal of Human Genetics|volume=69|issue=2|year=2001|pages=301–314|issn=00029297|doi=10.1086/321976}}</ref><ref name="QuinteroSaba2019">{{cite journal|last1=Quintero|first1=Javier|last2=Saba|first2=Jihan|last3=Garcia|first3=Carlos|title=Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome: Case Report and Review of an Auto-inflammatory Disorder|journal=Cureus|year=2019|issn=2168-8184|doi=10.7759/cureus.3916}}</ref><ref name="ChenYu2014">{{cite journal|last1=Chen|first1=Yun-Ju|last2=Yu|first2=Hsin-Hui|last3=Yang|first3=Yao-Hsu|last4=Lau|first4=Yu-Lung|last5=Lee|first5=Wen-I|last6=Chiang|first6=Bor-Luen|title=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=Journal of Microbiology, Immunology and Infection|volume=47|issue=6|year=2014|pages=550–554|issn=16841182|doi=10.1016/j.jmii.2012.07.003}}</ref>
==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.


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.
==Natural History, Complications, and Prognosis==
== References ==
*The clinically important [[complication]] of TNF receptor associated periodic syndrome is [[amyloidosis]] which results from the continuous elevation of [[serum amyloid A]] ([[Serum amyloid A|SAA]]).<ref name="AgannaHammond2003">{{cite journal|last1=Aganna|first1=Ebun|last2=Hammond|first2=Linda|last3=Hawkins|first3=Philip N.|last4=Aldea|first4=Anna|last5=McKee|first5=Shane A.|last6=van Amstel|first6=Hans Kristian Ploos|last7=Mischung|first7=Claudia|last8=Kusuhara|first8=Koichi|last9=Saulsbury|first9=Frank T.|last10=Lachmann|first10=Helen J.|last11=Bybee|first11=Alison|last12=McDermott|first12=Elizabeth M.|last13=La Regina|first13=Micaela|last14=Arostegui|first14=Juan I.|last15=Campistol|first15=Josep M.|last16=Worthington|first16=Sharron|last17=High|first17=Kevin P.|last18=Molloy|first18=Michael G.|last19=Baker|first19=Nicholas|last20=Bidwell|first20=Jeff L.|last21=Castañer|first21=José L.|last22=Whiteford|first22=Margo L.|last23=Janssens-Korpola|first23=P. L.|last24=Manna|first24=Raffaele|last25=Powell|first25=Richard J.|last26=Woo|first26=Patricia|last27=Solis|first27=Pilar|last28=Minden|first28=Kirsten|last29=Frenkel|first29=Joost|last30=Yagüe|first30=Jordi|last31=Mirakian|first31=Rita M.|last32=Hitman|first32=Graham A.|last33=McDermott|first33=Michael F.|title=Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes|journal=Arthritis & Rheumatism|volume=48|issue=9|year=2003|pages=2632–2644|issn=00043591|doi=10.1002/art.11215}}</ref>
<references />
*It is estimated that 10-20% of the individuals with TRAPS may develop [[amyloidosis]].<ref name="HoffmanSimon2009">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Simon|first2=Anna|title=Recurrent febrile syndromes—what a rheumatologist needs to know|journal=Nature Reviews Rheumatology|volume=5|issue=5|year=2009|pages=249–256|issn=1759-4790|doi=10.1038/nrrheum.2009.40}}</ref>
{{OMIM|142680}}
*[[Mutations]] involving [[cysteine]] substitution are more commonly associated with [[amyloidosis]].<ref name="AksentijevichGalon2001">{{cite journal|last1=Aksentijevich|first1=Ivona|last2=Galon|first2=Jérôme|last3=Soares|first3=Miguel|last4=Mansfield|first4=Elizabeth|last5=Hull|first5=Keith|last6=Oh|first6=Hye-Hyun|last7=Goldbach-Mansky|first7=Raphaela|last8=Dean|first8=Jane|last9=Athreya|first9=Balu|last10=Reginato|first10=Antonio J.|last11=Henrickson|first11=Michael|last12=Pons-Estel|first12=Bernardo|last13=O’Shea|first13=John J.|last14=Kastner|first14=Daniel L.|title=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|journal=The American Journal of Human Genetics|volume=69|issue=2|year=2001|pages=301–314|issn=00029297|doi=10.1086/321976}}</ref>
 
==Diagnosis==
== External links ==
===Diagnostic Study of Choice===
 
*[[Diagnosis]] is based on the [[clinical]] features. In 2017, Eurofever registry developed a set of [[Criterion|criteria]] for the [[diagnosis]] of the four major [[Periodic fever syndrome|periodic fever syndromes]]. Table below is the [[diagnostic criteria]] for TRAPS.<ref name="FedericiSormani2015">{{cite journal|last1=Federici|first1=Silvia|last2=Sormani|first2=Maria Pia|last3=Ozen|first3=Seza|last4=Lachmann|first4=Helen J|last5=Amaryan|first5=Gayane|last6=Woo|first6=Patricia|last7=Koné-Paut|first7=Isabelle|last8=Dewarrat|first8=Natacha|last9=Cantarini|first9=Luca|last10=Insalaco|first10=Antonella|last11=Uziel|first11=Yosef|last12=Rigante|first12=Donato|last13=Quartier|first13=Pierre|last14=Demirkaya|first14=Erkan|last15=Herlin|first15=Troels|last16=Meini|first16=Antonella|last17=Fabio|first17=Giovanna|last18=Kallinich|first18=Tilmann|last19=Martino|first19=Silvana|last20=Butbul|first20=Aviel Yonatan|last21=Olivieri|first21=Alma|last22=Kuemmerle-Deschner|first22=Jasmin|last23=Neven|first23=Benedicte|last24=Simon|first24=Anna|last25=Ozdogan|first25=Huri|last26=Touitou|first26=Isabelle|last27=Frenkel|first27=Joost|last28=Hofer|first28=Michael|last29=Martini|first29=Alberto|last30=Ruperto|first30=Nicolino|last31=Gattorno|first31=Marco|title=Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers|journal=Annals of the Rheumatic Diseases|volume=74|issue=5|year=2015|pages=799–805|issn=0003-4967|doi=10.1136/annrheumdis-2014-206580}}</ref>
* [http://au.groups.yahoo.com/group/TRAPS_support/ TRAPS support group on Yahoo!]
{| 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="left" |Periorbital oedema
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |21
|-
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="left" |Duration of episodes >6 days
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |19
|-
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="left" |Migratory rash
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |18
|-
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="left" |Myalgia
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |6
|-
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="left" |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="left" |Vomiting
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |14
|-
! style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="left" |Aphthous stomatitis
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |15
|}
*The cut-off value for the [[diagnosis]] of TRAPS is score equal or higher than 43 scores.
*The overall [[sensitivity]] and [[specificity]] of this set of criteria for the [[diagnosis]] of this [[disorder]] is 59% and 84%, respectively.
*The [[Gold standard (test)|gold standard]] [[Diagnostic study of choice|diagnostic study]] for TNF receptor associated periodic syndrome is the [[genetic analysis]].<ref name="QuinteroSaba2019">{{cite journal|last1=Quintero|first1=Javier|last2=Saba|first2=Jihan|last3=Garcia|first3=Carlos|title=Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome: Case Report and Review of an Auto-inflammatory Disorder|journal=Cureus|year=2019|issn=2168-8184|doi=10.7759/cureus.3916}}</ref>


===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]], [[abdominal pain]], [[diarrhea]], puffy eyes (due to [[periorbital edema]]), [[Myalgia|migrating muscle and joint pain]], and [[Conjunctivitis|erythema of the eye]].<ref name="CantariniIacoponi2011">{{cite journal|last1=Cantarini|first1=L.|last2=Iacoponi|first2=F.|last3=Lucherini|first3=O.M.|last4=Obici|first4=L.|last5=Brizi|first5=M.G.|last6=Cimaz|first6=R.|last7=Rigante|first7=D.|last8=Benucci|first8=M.|last9=Sebastiani|first9=G.D.|last10=Brucato|first10=A.|last11=Sabadini|first11=L.|last12=Simonini|first12=G.|last13=Giani|first13=T.|last14=Pasini|first14=F. Laghi|last15=Baldari|first15=C.T.|last16=Bellisai|first16=F.|last17=Valentini|first17=G.|last18=Bombardieri|first18=S.|last19=Paolazzi|first19=G|last20=Galeazzi|first20=M.|title=Validation of a Diagnostic Score for the Diagnosis of Autoinflammatory Diseases in Adults|journal=International Journal of Immunopathology and Pharmacology|volume=24|issue=3|year=2011|pages=695–702|issn=0394-6320|doi=10.1177/039463201102400315}}</ref>


===Physical Examination===
*Common [[physical examination]] findings of TNF receptor-associated periodic syndrome include [[fever]], [[skin rash]], [[lymphadenopathy]], and [[splenomegaly]].<ref name="CantariniIacoponi2011">{{cite journal|last1=Cantarini|first1=L.|last2=Iacoponi|first2=F.|last3=Lucherini|first3=O.M.|last4=Obici|first4=L.|last5=Brizi|first5=M.G.|last6=Cimaz|first6=R.|last7=Rigante|first7=D.|last8=Benucci|first8=M.|last9=Sebastiani|first9=G.D.|last10=Brucato|first10=A.|last11=Sabadini|first11=L.|last12=Simonini|first12=G.|last13=Giani|first13=T.|last14=Pasini|first14=F. Laghi|last15=Baldari|first15=C.T.|last16=Bellisai|first16=F.|last17=Valentini|first17=G.|last18=Bombardieri|first18=S.|last19=Paolazzi|first19=G|last20=Galeazzi|first20=M.|title=Validation of a Diagnostic Score for the Diagnosis of Autoinflammatory Diseases in Adults|journal=International Journal of Immunopathology and Pharmacology|volume=24|issue=3|year=2011|pages=695–702|issn=0394-6320|doi=10.1177/039463201102400315}}</ref>
**[[Cutaneous]] manifestations of TRAPS include an [[erythematous rash]] that overlies an area with [[myalgia]], [[erysipelas]]-like [[erythema]], and [[urticaria]].
**Eye involvement is characteristics for this [[disease]] among other [[Periodic fever syndrome|autoinflammatory diseases]] and may manifest with [[conjunctivitis]], [[periorbital edema]], and [[uveitis]].
**[[Signs]] consistent with [[acute abdomen]] may also be present.<ref name="ChenYu2014">{{cite journal|last1=Chen|first1=Yun-Ju|last2=Yu|first2=Hsin-Hui|last3=Yang|first3=Yao-Hsu|last4=Lau|first4=Yu-Lung|last5=Lee|first5=Wen-I|last6=Chiang|first6=Bor-Luen|title=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=Journal of Microbiology, Immunology and Infection|volume=47|issue=6|year=2014|pages=550–554|issn=16841182|doi=10.1016/j.jmii.2012.07.003}}</ref>
===Laboratory Findings===
*An elevated concentration of [[blood]] [[Acute phase reactant|acute phase reactants]] are observed both during and in between [[inflammatory]] attacks.<ref name="ChenYu2014">{{cite journal|last1=Chen|first1=Yun-Ju|last2=Yu|first2=Hsin-Hui|last3=Yang|first3=Yao-Hsu|last4=Lau|first4=Yu-Lung|last5=Lee|first5=Wen-I|last6=Chiang|first6=Bor-Luen|title=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=Journal of Microbiology, Immunology and Infection|volume=47|issue=6|year=2014|pages=550–554|issn=16841182|doi=10.1016/j.jmii.2012.07.003}}</ref>
*An elevated level of [[serum]] [[TNF-α]], [[C3 (complement)|C3]], and [[Complement|C4]] have also been reported.
===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===
*There are no [[echocardiography]]/[[ultrasound]] findings associated with TNF receptor-associated periodic syndrome.
===CT scan===
*There are no [[CT scan]] findings associated with TNF receptor-associated periodic syndrome.
*However, [[Paraaortic lymph node|para-aortic]] and [[mesenteric]] [[Lymphadenopathy|lymphadenopathies]] have been reported in one case.<ref name="ChenYu2014">{{cite journal|last1=Chen|first1=Yun-Ju|last2=Yu|first2=Hsin-Hui|last3=Yang|first3=Yao-Hsu|last4=Lau|first4=Yu-Lung|last5=Lee|first5=Wen-I|last6=Chiang|first6=Bor-Luen|title=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=Journal of Microbiology, Immunology and Infection|volume=47|issue=6|year=2014|pages=550–554|issn=16841182|doi=10.1016/j.jmii.2012.07.003}}</ref>
===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 [[Corticosteroid|corticosteroids]], [[etanercept]], and [[infliximab]].<ref name="ChenYu2014">{{cite journal|last1=Chen|first1=Yun-Ju|last2=Yu|first2=Hsin-Hui|last3=Yang|first3=Yao-Hsu|last4=Lau|first4=Yu-Lung|last5=Lee|first5=Wen-I|last6=Chiang|first6=Bor-Luen|title=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=Journal of Microbiology, Immunology and Infection|volume=47|issue=6|year=2014|pages=550–554|issn=16841182|doi=10.1016/j.jmii.2012.07.003}}</ref>
*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.<ref name="DreweMcDermott2000">{{cite journal|last1=Drewe|first1=Elizabeth|last2=McDermott|first2=Elizabeth M.|last3=Powell|first3=Richard J.|title=Treatment of the Nephrotic Syndrome with Etanercept in Patients with the Tumor Necrosis Factor Receptor–Associated Periodic Syndrome|journal=New England Journal of Medicine|volume=343|issue=14|year=2000|pages=1044–1045|issn=0028-4793|doi=10.1056/NEJM200010053431412}}</ref>
===Surgery===
*[[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 ==
{{reflist|2}}
[[Category:Rheumatology]]
[[Category:Rheumatology]]
 
[[fr:TNF receptor-associated periodic syndrome]]
[[fr: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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