Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies

Two new recommendations from the European Alliance of Associations for Rheumatology (EULAR) and the American College of Rheumatology (ACR) for the management of two groups of such autoinflammatory diseases: interleukin-1-mediated and Type-I interferonopathies were recently published. There are very few projects that supported both the European Alliance of Associations for Rheumatology (EULAR) and the American College of Rheumatology (ACR) at the same time. Until now there was no project supported by these organizations for pediatric rheumatology and we were funded by them to complete these projects. These are the first guidelines in pediatric rheumatology supported by the two largest organizations in the world. For the rheumatologists, the most prestigious publication and grant support in the international rheumatology society. Both guidelines were published simultaneously in the most prestigious two journals Annals of the Rheumatic Diseases and Arthritis & Rheumatology.

They are rare diseases and there is a great need to standardize diagnosis and care for the safety and outcome of the patients. These diseases need deep expertise and so the experts are trying, they are still preliminary, to add clarity to their management. These patients similarly present with chronic and organ-specific inflammation that leads to progressive organ damage, morbidity, and higher mortality risk when not managed. Each of these diseases requires a confirmed genetic diagnosis so that treatments can be targeted, and the patient receives appropriate genetic counselling, screening for complications, and information on prognosis.

The guidelines relied on the products of two working groups for each disease type. After meeting to come up with clinical questions, the groups excluded non-English-language studies, case reports, and animal models or basic science studies. They then met again to develop final consensus statements.

Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron KS, Benseler S, Berard R, Broderick L, Dedeoglu F, Diebold M, Durrant KL, Ferguson P, Foell D, Hausmann J, Jones OY, Kastner DL, Lachmann HJ, Laxer RM, Rivera D, Ruperto N, Simon A, Twilt M, Frenkel J, Hoffman H, de Jesus AA, Kuemmerle-Deschner JB, Ozen S, Gattorno M, Goldbach-Mansky R, Demirkaya E. 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. Ann Rheum Dis. 2022 May 27:annrheumdis-2021-221801. doi: 10.1136/annrheumdis-2021-221801. Epub ahead of print. PMID: 35623638.

Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron K, Benseler S, Berard RA, Broderick L, Dedeoglu F, Diebold M, Durrant K, Ferguson P, Foell D, Hausmann JS, Jones OY, Kastner D, Lachmann HJ, Laxer RM, Rivera D, Ruperto N, Simon A, Twilt M, Frenkel J, Hoffman HM, de Jesus AA, Kuemmerle-Deschner JB, Ozen S, Gattorno M, Goldbach-Mansky R, Demirkaya E. 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. Arthritis Rheumatol. 2022 May 27. doi: 10.1002/art.42139. Epub ahead of print. PMID: 35621220.