Sources & References

26 published sources for TNF Receptor-Associated Periodic Syndrome, each with evidence grades and key findings.

26 total sourcesGrade A: 8Grade B: 13Grade C: 4Grade D: 1treatment (10)clinical (4)reviews (2)diagnosis (1)genetics (5)pathogenesis (3)pathophysiology (1)

treatment

10 sources

Grade Bcohortn=226Unverified

INSAID variant classification and Eurofever criteria guide optimal treatment strategy in patients with TRAPS: data from the Eurofever Registry

Papa R, Lane T, Minden K, Touitou I, Cantarini L, Cattalini M, Obici L, et al. · J Allergy Clin Immunol Pract · 2021

  • ●226 patients classified by INSAID: Group A (pathogenic) 56%, Group B (uncertain) 35%, Group C (benign) 9%
  • ●Anti-IL-1 drugs achieved >85% complete response in patients meeting Eurofever criteria
  • ●No patients on anti-IL-1 treatment developed AA amyloidosis
  • ●16% of Group A patients developed AA amyloidosis
DetailsDOI ↗
Grade Dcase reportn=1Unverified

Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab

Lane T, Loeffler JM, Rowczenio DM, Gilbertson JA, Bybee A, Russell TL, Gillmore JD, Wechalekar AD, Hawkins PN, Lachmann HJ · Arthritis Rheum · 2011

  • ●First case report of tocilizumab in TRAPS
  • ●Effective when etanercept and anakinra had failed
  • ●Supports role of IL-6 in TRAPS pathogenesis
DetailsDOI ↗

clinical

4 sources

Grade Bcase series and reviewUnverified

Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review

Delaleu J, Deshayes S, Rodrigues F, Savey L, Rivière E, Martin Silva N, Aouba A, Amselem S, Rabant M, Grateau G, Giurgea I, Georgin-Lavialle S · Rheumatology (Oxford) · 2021

  • ●AA amyloidosis preceded TRAPS diagnosis in 96% of cases
  • ●47% required renal replacement therapy
  • ●14% mortality after median 23-month follow-up
  • ●Biologic treatment preserved residual renal function
DetailsDOI ↗
Grade Bcohortn=80Unverified

Clinical features at onset and genetic characterization of pediatric and adult patients with TRAPS: a series of 80 cases from the AIDA Network

Gaggiano C, Vitale A, Obici L, Merlini G, Soriano A, Viapiana O, Cattalini M, Maggio MC, Lopalco G, Montin D, et al. · Mediators Inflamm · 2020

  • ●80 patients from 19 Italian referral centres
  • ●Pericarditis and myalgia more frequent in adult-onset
  • ●Abdominal pain in 84% of children vs 25% of adults
  • ●Clinical phenotype more influenced by mutation penetrance than age at onset
DetailsDOI ↗
Grade Bcohortn=158Unverified

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

Lachmann HJ, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L, Frenkel J, Anton J, Kone-Paut I, Cattalini M, Bader-Meunier B, Insalaco A, et al. · Ann Rheum Dis · 2014

  • ●Largest case series at time of publication (158 validated patients)
  • ●R92Q most common variant (34%), T50M (10%), cysteine disruption in 27%
  • ●Median onset age 4.3 years; median 70 symptomatic days/year
  • ●Fever (88%) and limb pain most common symptoms
DetailsDOI ↗
Grade Bcohortn=131Unverified

Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study

Cantarini L, Lucherini OM, Brucato A, Barone L, Cumetti D, Iacoponi F, Rigante D, et al. · Clin Res Cardiol · 2012

  • ●6.1% of recurrent pericarditis patients carried TNFRSF1A mutations
  • ●TRAPS patients with pericarditis had more recurrences and needed immunosuppression
  • ●Poor colchicine response is a clue to TRAPS-associated pericarditis
DetailsDOI ↗

reviews

2 sources

diagnosis

1 sources

genetics

5 sources

Grade AcohortUnverified

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

Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL · Am J Hum Genet · 2001

  • ●Identified new TNFRSF1A mutations and performed genotype-phenotype analysis
  • ●Cysteine mutations: 93% penetrance, 24% amyloidosis risk
  • ●Non-cysteine mutations: 82% penetrance, 2% amyloidosis risk
DetailsDOI ↗
Grade AcohortUnverified

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes

McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, et al. · Cell · 1999

  • ●Identified TNFRSF1A mutations as the cause of familial Hibernian fever/TRAPS
  • ●Proposed defective TNFR1 shedding as pathogenic mechanism
  • ●Established TRAPS as a distinct autoinflammatory syndrome
DetailsDOI ↗
Grade Blinkage studyUnverified

Linkage of familial Hibernian fever to chromosome 12p13

McDermott MF, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, McCarthy J, Phelan M, Molloy MG, Powell RJ, Amos CI, Hitman GA · Am J Hum Genet · 1998

  • ●Mapped the Familial Hibernian Fever gene to chromosome 12p13
  • ●Maximum LOD score of 3.79 between D12S77 and D12S356
  • ●First genetic localisation of an autosomal dominant periodic fever
DetailsDOI ↗

pathogenesis

3 sources

Grade AcohortUnverified

Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)

Bulua AC, Simon A, Maddipati R, Pelletier M, Park H, Kim KY, Sack MN, Kastner DL, Siegel RM · J Exp Med · 2011

  • ●Elevated mitochondrial ROS in TRAPS patient cells and mutant mouse models
  • ●Mitochondrial ROS drive enhanced LPS-induced MAPK phosphorylation and cytokine production
  • ●Antioxidants reduce inflammatory cytokine output — potential therapeutic target
DetailsDOI ↗
Grade AcohortUnverified

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

Simon A, Park H, Maddipati R, Lobito AA, Bulua AC, Jackson AJ, Chae JJ, Ettinger R, de Koning HD, Cruz AC, Kastner DL, Komarow H, Siegel RM · Proc Natl Acad Sci USA · 2010

  • ●WT and mutant TNFR1 act in concert from distinct cellular locations to potentiate inflammation
  • ●Mutant TNFR1 enhances MAPK activation and cytokine secretion upon LPS stimulation
  • ●Homozygous mutant mice resemble TNFR1-deficient mice — both alleles needed for disease
DetailsDOI ↗

pathophysiology

1 sources

Grade Ccase seriesUnverified

Familial Hibernian fever

Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ · Q J Med · 1982

  • ●First description of autosomal dominant periodic fever in an Irish family
  • ●Distinguished from FMF by steroid responsiveness and autosomal dominant inheritance
  • ●13 affected persons across 5 sibships in 3 generations
DetailsPubMed ↗