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

被引:10
作者
Delaleu, Jeremie [1 ,2 ]
Deshayes, Samuel [3 ]
Rodrigues, Francois [1 ,2 ]
Savey, Lea [1 ,2 ]
Riviere, Etienne [4 ]
Silva, Nicolas Martin [3 ]
Aouba, Achille [3 ]
Amselem, Serge [2 ,5 ]
Rabant, Marion [6 ]
Grateau, Gilles [1 ,2 ]
Giurgea, Irina [2 ,5 ]
Georgin-Lavialle, Sophie [1 ,2 ]
机构
[1] Sorbonne Univ, Tenon Hosp, AP HP, GRC GRAASU,Dept Internal Med, Paris, France
[2] Natl Reference Ctr Autoinflammatory Dis & Inflamm, Paris, France
[3] Normandie Univ, Dept Internal Med, CHU Caen Normandie, Caen, France
[4] CHU Bordeaux, Dept Internal Med, Haut Leveque Hosp, Pessac, France
[5] Sorbonne Univ, Trousseau Hosp, AP HP, Genet Lab, Paris, France
[6] Hop Necker Enfants Malad, AP HP, Dept Pathol, Paris, France
关键词
Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS); AA amyloidosis; TNFRSF1A; interleukin 1 receptor antagonist protein; SYNDROME TRAPS; TNF RECEPTOR; NEPHROTIC SYNDROME; FEVER; MUTATION; ETANERCEPT; ANAKINRA;
D O I
10.1093/rheumatology/keab252
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objectives: TNF receptor-1-associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder associated with mutations in the TNF receptor super family 1 A (TNFRSF1A) gene. AA amyloidosis (AA) is the most severe complication of TRAPS. To study the occurrence and prognosis of AA in TRAPS, we conducted a retrospective study of all French cases and a systematic literature review. Methods: This case series includes TRAPS patients followed by our centre from 2000 to 2020 presenting with histologically confirmed AA. We conducted a systematic literature review on the PubMed and EMBASE databases for articles published up to February 2021 following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and using the keywords: amyloidoisis, amyloid, TNF receptor-associated periodic syndrome, TNF receptor-associated periodic syndrome, tumor necrosis factor receptor-associated periodic syndrome, TRAPS, TNFRSF1A, familial hibernian fever and hibernian familial fever. Results: A total of 41 TRAPS with AA were studied: three new patients and 38 cases from the literature. AA diagnosis preceded that of TRAPS in 96% of cases, and 17/36 (47%) required renal replacement therapy. Death occurred in 5/36 (14%) with a median follow-up of 23 months. Effect of biologics on AA were available for 21 regimens in 19 patients: 10 improved renal function, seven stabilized and four worsened. Four patients (36% of transplanted patients) relapse AA on kidney graft (only one under etanercept). Conclusion: TRAPS is revealed by AA in most cases. Therefore, clinical features of TRAPS should be screened for in AA patients. IL-1 antagonist can help to normalize inflammation and to preserve renal function.
引用
收藏
页码:5775 / 5784
页数:10
相关论文
共 32 条
  • [1] Bourguiba R, 2020, REV MED INTERNE
  • [2] A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis
    Broeders, EN
    Abramowicz, D
    Abramowicz, MJ
    Parma, J
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (03) : 331 - 331
  • [3] Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): State of the art and future perspectives
    Cantarini, Luca
    Lucherini, Orso Maria
    Muscari, Isabella
    Frediani, Bruno
    Galeazzi, Mauro
    Brizi, Maria Giuseppina
    Simonini, Gabriele
    Cimaz, Rolando
    [J]. AUTOIMMUNITY REVIEWS, 2012, 12 (01) : 38 - 43
  • [4] Interleukin 1α: a comprehensive review on the role of IL-1α in the pathogenesis and treatment of autoimmune and inflammatory diseases
    Cavalli, Giulio
    Colafrancesco, Serena
    Emmi, Giacomo
    Imazio, Massimo
    Lopalco, Giuseppe
    Maggio, Maria Cristina
    Sota, Jurgen
    Dinarello, Charles A.
    [J]. AUTOIMMUNITY REVIEWS, 2021, 20 (03)
  • [5] Coutinho J, 2019, Case Rep Nephrol, V2019
  • [6] Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis -: Pathogenetic and clinical implications
    D'Osualdo, A
    Ferlito, F
    Prigione, I
    Obici, L
    Meini, A
    Zulian, F
    Pontillo, A
    Corona, F
    Barcellona, R
    Di Duca, M
    Santamaria, G
    Traverso, F
    Picco, P
    Baldi, M
    Plebani, A
    Ravazzolo, R
    Ceccherini, I
    Martini, A
    Gattorno, M
    [J]. ARTHRITIS AND RHEUMATISM, 2006, 54 (03): : 998 - 1008
  • [7] Dinc A, 2005, J NEPHROL, V18, P626
  • [8] The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
    Dodé, C
    André, M
    Bienvenu, T
    Hausfater, P
    Pêcheux, C
    Bienvenu, J
    Lecron, JC
    Reinert, P
    Cattan, D
    Piette, JC
    Szajnert, MF
    Delpech, M
    Grateau, G
    [J]. ARTHRITIS AND RHEUMATISM, 2002, 46 (08): : 2181 - 2188
  • [9] Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome
    Drewe, E
    McDermott, EM
    Powell, RJ
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2000, 343 (14) : 1044 - 1045
  • [10] Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome
    Drewe, E
    Huggins, ML
    Morgan, AG
    Cassidy, MJD
    Powell, RJ
    [J]. RHEUMATOLOGY, 2004, 43 (11) : 1405 - 1408