The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry

OBJECTIVE: To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international registry. METHODS: A web-based registry collected retrospective data on p...

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Autores: Lachmann, Helen J., Papa, R., Gerhold, K., Obici, Laura, Touitou, I., Cantarini, Luca, Frenkel, Joost, Antón López, Jordi, Koné-Paut, Isabelle, Cattalini, Marco, Bader-Meunier, B., Insalaco, Antonella, Hentgen, Veronique, Merino, R., Modesto, Consuelo, Toplak, N., Berendes, R., Ozen, Seza, Cimaz, Rolando, Jansson, Annette F., Brogan, Paul, Hawkins, Philip N., Ruperto, N., Martini, Alberto, Woo, Patricia, Gattorno, Marco
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/120438
Acceso en línea:https://hdl.handle.net/2445/120438
Access Level:acceso abierto
Palabra clave:Reumatologia pediàtrica
Inflamació
Febre
Malalties hereditàries
Pediatric rheumatology
Inflammation
Fever
Genetic diseases
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spelling The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registryLachmann, Helen J.Papa, R.Gerhold, K.Obici, LauraTouitou, I.Cantarini, LucaFrenkel, JoostAntón López, JordiKoné-Paut, IsabelleCattalini, MarcoBader-Meunier, B.Insalaco, AntonellaHentgen, VeroniqueMerino, R.Modesto, ConsueloToplak, N.Berendes, R.Ozen, SezaCimaz, RolandoJansson, Annette F.Brogan, PaulHawkins, Philip N.Ruperto, N.Martini, AlbertoWoo, PatriciaGattorno, MarcoReumatologia pediàtricaInflamacióFebreMalalties hereditàriesPediatric rheumatologyInflammationFeverGenetic diseasesOBJECTIVE: To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international registry. METHODS: A web-based registry collected retrospective data on patients with TNFRSF1A sequence variants and inflammatory symptoms. Participating hospitals included paediatric rheumatology centres and adult centres with a specific interest in autoinflammatory diseases. Cases were independently validated by experts in the disease. RESULTS: Complete information on 158 validated patients was available. The most common TNFRSF1A variant was R92Q (34% of cases), followed by T50M (10%). Cysteine residues were disrupted in 27% of cases, accounting for 39% of sequence variants. A family history was present in 19% of patients with R92Q and 64% of those with other variants. The median age at which symptoms began was 4.3 years but 9.1% of patients presented after 30 years of age. Attacks were recurrent in 88% and the commonest features associated with the pathogenic variants were fever (88%), limb pain (85%), abdominal pain (74%), rash (63%) and eye manifestations (45%). Disease associated with R92Q presented slightly later at a median of 5.7 years with significantly less rash or eye signs and more headaches. Children were more likely than adults to present with lymphadenopathy, periorbital oedema and abdominal pains. AA amyloidosis has developed in 16 (10%) patients at a median age of 43 years. CONCLUSIONS: In this, the largest reported case series to date, the genetic heterogeneity of TRAPS is accompanied by a variable phenotype at presentation. Patients had a median 70 symptomatic days a year, with fever, limb and abdominal pain and rash the commonest symptoms. Overall, there is little evidence of a significant effect of age or genotype on disease features at presentation.BMJ Publishing Group2013info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/120438Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1136/annrheumdis-2013-204184Annals of the Rheumatic Diseases, 2013, vol. 73, num. 12, p. 2160-2167https://doi.org/10.1136/annrheumdis-2013-204184info:eu-repo/grantAgreement/EC/FP7/200923(c) BMJ Publishing Group, 2013info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1204382026-05-27T06:46:51Z
dc.title.none.fl_str_mv The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
title The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
spellingShingle The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
Lachmann, Helen J.
Reumatologia pediàtrica
Inflamació
Febre
Malalties hereditàries
Pediatric rheumatology
Inflammation
Fever
Genetic diseases
title_short The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
title_full The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
title_fullStr The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
title_full_unstemmed The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
title_sort The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
dc.creator.none.fl_str_mv Lachmann, Helen J.
Papa, R.
Gerhold, K.
Obici, Laura
Touitou, I.
Cantarini, Luca
Frenkel, Joost
Antón López, Jordi
Koné-Paut, Isabelle
Cattalini, Marco
Bader-Meunier, B.
Insalaco, Antonella
Hentgen, Veronique
Merino, R.
Modesto, Consuelo
Toplak, N.
Berendes, R.
Ozen, Seza
Cimaz, Rolando
Jansson, Annette F.
Brogan, Paul
Hawkins, Philip N.
Ruperto, N.
Martini, Alberto
Woo, Patricia
Gattorno, Marco
author Lachmann, Helen J.
author_facet Lachmann, Helen J.
Papa, R.
Gerhold, K.
Obici, Laura
Touitou, I.
Cantarini, Luca
Frenkel, Joost
Antón López, Jordi
Koné-Paut, Isabelle
Cattalini, Marco
Bader-Meunier, B.
Insalaco, Antonella
Hentgen, Veronique
Merino, R.
Modesto, Consuelo
Toplak, N.
Berendes, R.
Ozen, Seza
Cimaz, Rolando
Jansson, Annette F.
Brogan, Paul
Hawkins, Philip N.
Ruperto, N.
Martini, Alberto
Woo, Patricia
Gattorno, Marco
author_role author
author2 Papa, R.
Gerhold, K.
Obici, Laura
Touitou, I.
Cantarini, Luca
Frenkel, Joost
Antón López, Jordi
Koné-Paut, Isabelle
Cattalini, Marco
Bader-Meunier, B.
Insalaco, Antonella
Hentgen, Veronique
Merino, R.
Modesto, Consuelo
Toplak, N.
Berendes, R.
Ozen, Seza
Cimaz, Rolando
Jansson, Annette F.
Brogan, Paul
Hawkins, Philip N.
Ruperto, N.
Martini, Alberto
Woo, Patricia
Gattorno, Marco
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Reumatologia pediàtrica
Inflamació
Febre
Malalties hereditàries
Pediatric rheumatology
Inflammation
Fever
Genetic diseases
topic Reumatologia pediàtrica
Inflamació
Febre
Malalties hereditàries
Pediatric rheumatology
Inflammation
Fever
Genetic diseases
description OBJECTIVE: To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international registry. METHODS: A web-based registry collected retrospective data on patients with TNFRSF1A sequence variants and inflammatory symptoms. Participating hospitals included paediatric rheumatology centres and adult centres with a specific interest in autoinflammatory diseases. Cases were independently validated by experts in the disease. RESULTS: Complete information on 158 validated patients was available. The most common TNFRSF1A variant was R92Q (34% of cases), followed by T50M (10%). Cysteine residues were disrupted in 27% of cases, accounting for 39% of sequence variants. A family history was present in 19% of patients with R92Q and 64% of those with other variants. The median age at which symptoms began was 4.3 years but 9.1% of patients presented after 30 years of age. Attacks were recurrent in 88% and the commonest features associated with the pathogenic variants were fever (88%), limb pain (85%), abdominal pain (74%), rash (63%) and eye manifestations (45%). Disease associated with R92Q presented slightly later at a median of 5.7 years with significantly less rash or eye signs and more headaches. Children were more likely than adults to present with lymphadenopathy, periorbital oedema and abdominal pains. AA amyloidosis has developed in 16 (10%) patients at a median age of 43 years. CONCLUSIONS: In this, the largest reported case series to date, the genetic heterogeneity of TRAPS is accompanied by a variable phenotype at presentation. Patients had a median 70 symptomatic days a year, with fever, limb and abdominal pain and rash the commonest symptoms. Overall, there is little evidence of a significant effect of age or genotype on disease features at presentation.
publishDate 2013
dc.date.none.fl_str_mv 2013
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/120438
url https://hdl.handle.net/2445/120438
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1136/annrheumdis-2013-204184
Annals of the Rheumatic Diseases, 2013, vol. 73, num. 12, p. 2160-2167
https://doi.org/10.1136/annrheumdis-2013-204184
info:eu-repo/grantAgreement/EC/FP7/200923
dc.rights.none.fl_str_mv (c) BMJ Publishing Group, 2013
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) BMJ Publishing Group, 2013
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BMJ Publishing Group
publisher.none.fl_str_mv BMJ Publishing Group
dc.source.none.fl_str_mv Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,301629

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