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.

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 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.

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Déclaration de conflit d'intérêts

Competing interests: DA: received grants from AbbVie, Amgen, Lilly, Novartis, Roche, Sooi and Sanofi; received consulting fees from Abbvie, Amgen, Lilly, Merck, Novartis, Pfizer, Roche, Sandoz; received lecture fees from Lilly, Merck, Pfizer, Roche and Sandoz. RB: received consultation fees from Sandoz and Roche. LB: received grants from Novartis and Regeneron FD: received consulting fees from Novartis. KLD: is the president of the Autoinflammatory Alliance. PF: received grants from NIH, CARRA, Inc; consulting fees from Novartis. DF: received grants from Novartis and Sobi; received consultation fees from Boehringer Ingelheim, Chugai-Roche, Merck, Novartis and Sobi; received lecture fees from Novartis, Peer Voice and Sobi. JH: received grants from CARRA and Sobi; consultation fees from Novartis, Biogen and Pfizer. RML: received consultation fees from Novartis and he is participating on a Data Safety Monitoring/advisory Board of Sobi, Novartis, Sanofi. NR: received consulting fees from Ablynx, Amgen, AstraZeneca-Medimmune, Aurinia, Bayer, Bristol Myers and Squib, Cambridge Healthcare Research, Celgene, Domain Therapeutic, Eli Lilly, EMD Serono, GSK, Idorsia, Janssen, Novartis, Sobi, Pfizer and UCB; received lecture fees from Eli Lilly, GSK, Pfizer, Sobi and UCB; he is member of advisory boards of Pfizer and Eli Lilly. HH: received grants from Bristol Meyer Squib, Jecure, Takeda and Zomagen; received consulting fees from Novartis, Regeneron, Sobi and Aclaris, received advisory board fees from Novartis and IFM. JBK-D: received grants from Novartis and Sobi; received consulting fees from Novartis; received payment for lectures from Novartis and Sobi; received advisory board fees from Novartis. SO: lectures fees from Novartis and Sobi; meeting support from Sobi, AbbVie and Pfizer; advisory board payment from Novartis. MG: received grants from Novartis; received consultation and lecture fees from Novartis and Sobi. RG-M: received study support under government CRADAs from Eli Lilly, IFM and Sobi. ED: received grants from Sobi.