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Delaleu J, Deshayes S, Rodrigues F, et al. Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review. Rheumatology (Oxford). 2021;60(12):5775-5784doi: 10.1093/rheumatology/keab252.
Delaleu, J., Deshayes, S., Rodrigues, F., Savey, L., Rivière, E., Silva, N. M., Aouba, A., Amselem, S., Rabant, M., Grateau, G., Giurgea, I., & Georgin-Lavialle, S. (2021). Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review. Rheumatology (Oxford, England), 60(12), 5775-5784. https://doi.org/10.1093/rheumatology/keab252
Delaleu, Jérémie, et al. "Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review." Rheumatology (Oxford, England) vol. 60,12 (2021): 5775-5784. doi: https://doi.org/10.1093/rheumatology/keab252
Delaleu J, Deshayes S, Rodrigues F, Savey L, Rivière E, Silva NM, Aouba A, Amselem S, Rabant M, Grateau G, Giurgea I, Georgin-Lavialle S. Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review. Rheumatology (Oxford). 2021 Dec 01;60(12):5775-5784. doi: 10.1093/rheumatology/keab252. PMID: 33715002.
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Rheumatology (Oxford). 2021 Dec 01;60(12):5775-5784. doi: 10.1093/rheumatology/keab252.

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

Rheumatology (Oxford, England)

Jérémie Delaleu, Samuel Deshayes, Francois Rodrigues, Lea Savey, Etienne Rivière, Nicolas Martin Silva, Achille Aouba, Serge Amselem, Marion Rabant, Gilles Grateau, Irina Giurgea, Sophie Georgin-Lavialle

Affiliations

  1. Department of Internal Medicine, APHP, Tenon Hospital, Sorbonne University, GRC GRAASU, Paris, France.
  2. National Reference Center for Autoinflammatory Diseases and Inflammatory Amyloidosis (CeRéMAIA).
  3. Department of Internal Medicine, Normandie University, CHU de Caen Normandie, Caen.
  4. Department of Internal Medicine, CHU de Bordeaux, Haut-Lévêque Hospital, Pessac.
  5. Genetic Laboratory, Sorbonne University, APHP, Trousseau Hospital.
  6. Department of Pathology, APHP, Necker Hospital, Paris, France.

PMID: 33715002 DOI: 10.1093/rheumatology/keab252

Abstract

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.

© The Author(s) 2021. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: [email protected].

Keywords: AA amyloidosis; TNFRSF1A; Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS); interleukin 1 receptor antagonist protein

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