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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
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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

Micol Romano, Z. Serap Arici, David Piskin, Sara Alehashemi, Daniel Aletaha, Karyl Barron, Susanne Benseler, Roberta A. Berard, Lori Broderick, Fatma Dedeoglu, …
Arthritis & rheumatology (Hoboken, N.J.), Vol.74, pp.1102-1121
05/27/2022
DOI: 10.1002/art.42139
PMCID: PMC9531906
PMID: 35623638
url
https://www.ncbi.nlm.nih.gov/pmc/articles/9531906View
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Abstract

BackgroundThe 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.ObjectiveTo establish evidence-based recommendations for diagnosis, treatment and monitoring of patients with IL-1 mediated autoinflammatory diseases to standardise their management.MethodsA 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.ResultsThe 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.ConclusionThe 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.
United States Rheumatology Immunology Quality of Life Interleukin-1 General Biochemistry, Genetics and Molecular Biology Mevalonate Kinase Deficiency Hereditary Autoinflammatory Diseases Humans Article Child, Preschool Fever Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5] Interleukin 1 Receptor Antagonist Protein Receptors, Interleukin-1 Cryopyrin-Associated Periodic Syndromes Immunology and Allergy

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