The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist
Romano, Micol; Arici, Z. Serap; Piskin, David; Alehashemi, Sara; Aletaha, Daniel; Barron, Karyl S.; Benseler, Susanne; Berard, Roberta; Broderick, Lori; Dedeoglu, Fatma; Diebold, Michelle; Durrant, Karen L.; Ferguson, Polly; Foell, Dirk; Hausmann, Jonathan; Jones, Olcay Y.; Kastner, Daniel L.; Lachmann, Helen J.; Laxer, Ronald M.; Rivera, Dorelia; Ruperto, Nicolino; Simon, Anna; Twilt, Marinka; Frenkel, Joost; Hoffman, Hal; De Jesus, Adriana A.; Kuemmerle-Deschner, Jasmin Beate; Ozen, Seza; Gattorno, Marco; Goldbach-Mansky, Raphaela; Demirkaya, Erkan
(2022) Annals of the rheumatic diseases, volume 81, issue 7, pp. 907 - 921
(Article)
Abstract
Background The interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD) and deficiency of the IL-1 receptor antagonist (DIRA), belong to a group of rare immunodysregulatory diseases that primarily present in early childhood with variable multiorgan
... read more
involvement. When untreated, patients with severe clinical phenotypes have a poor prognosis, and diagnosis and management of these patients can be challenging. However, approved treatments targeting the proinflammatory cytokine IL-1 have been life changing and have significantly improved patient outcomes. Objective To establish evidence-based recommendations for diagnosis, treatment and monitoring of patients with IL-1 mediated autoinflammatory diseases to standardise their management. Methods A multinational, multidisciplinary task force consisting of physician experts, including rheumatologists, patients or caregivers and allied healthcare professionals, was established. Evidence synthesis, including systematic literature review and expert consensus (Delphi) via surveys, was conducted. Consensus methodology was used to formulate and vote on statements to guide optimal patient care. Results The task force devised five overarching principles, 14 statements related to diagnosis, 10 on therapy, and nine focused on long-term monitoring that were evidence and/or consensus-based for patients with IL-1 mediated diseases. An outline was developed for disease-specific monitoring of inflammation-induced organ damage progression and reported treatments of CAPS, TRAPS, MKD and DIRA. Conclusion The 2021 EULAR/American College of Rheumatology points to consider represent state-of-the-art knowledge based on published data and expert opinion to guide diagnostic evaluation, treatment and monitoring of patients with CAPS, TRAPS, MKD and DIRA, and to standardise and improve care, quality of life and disease outcomes.
show less
Download/Full Text
The full text of this publication is not available.
Keywords: Cryopyrin-Associated Periodic Syndromes, Cytokines, Inflammation, Interleukin 1 Receptor Antagonist Protein, Rheumatology, Immunology and Allergy, Immunology, General Biochemistry,Genetics and Molecular Biology
ISSN: 0003-4967
Publisher: BMJ Publishing Group
Note: Funding Information: Acknowledgements The task force gratefully thanks the librarian Darren Hamilton (London Health Sciences Centre, London, Ontario, Canada) for his contribution to the systematic literature search, Brian Feldman, Hayyah Clairman and Natasha Naraidoo for their support in conducting the Delphi process using questionnaires on the Redcap platform and EULAR, and EULAR and the American College of Rheumatology for financial and logistical support. This project is part of a series of "points to consider” consensus efforts to standardise the diagnosis and care of patients with the three major groups of known autoinflammatory diseases including 1. The IL-1 mediated diseases CAPS, TRAPS, MKD and DIRA; 2. The autoinflammatory interferonopathies chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), STING-associated vasculopathy with onset in infancy (SAVI) and Aicardi-Goutieres syndrome (AGS) and 3. The early diagnosis and management of inflammatory conditions with the potential progression to hemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS). This research was supported in part by the intramural research programme of the NIH institutes, NIAID, NHGRI and NIAMS. We would like to acknowledge, and are grateful for, the generous and invaluable financial and organisational support from the Autoinflammatory Alliance and the systemic JIA foundation. The Autoinflammatory Alliance substantially contributed to an international meeting and workgroup organisation in August 2019 that developed the outline of the points to consider project. The funds for this project came largely from patient fundraisers, online fundraising and the work of countless volunteers who made this project possible. Funding Information: This work was funded by EULAR/American College of Rheumatology. Publisher Copyright: © Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
(Peer reviewed)