Tumour Necrosis Factor Receptor-1 Associated Periodic Syndrome (TRAPS)-Related AA Amyloidosis

A National Case Series and Systematic Review

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

Disclosures

Rheumatology. 2021;60(12):5775-5784. 

In This Article

Abstract and Introduction

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.

Introduction

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.[1] Clinically, TRAPS is characterized by long accesses of recurrent fever, myalgia, abdominal pain and migratory skin rash, periorbital oedema and conjunctivitis.[2] The most severe complication of chronic inflammation in TRAPS is AA amyloidosis (AA), which can lead to kidney failure and even death.[3] To study the occurrence and prognosis of AA in TRAPS patients, we conducted a retrospective study of all French cases compiled by the National Reference Center for Autoinflammatory Diseases and Inflammatory Amyloidosis (CéRéMAIA). We also carried out a systematic literature review of cases published up to February 2021 involving patients carrying a pathogenic variant of TNFRSF1A with individual data available.

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