The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS
Date
2022
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Article
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Abstract
Objective.Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophyand elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of inter-feron genes (STING)–associated vasculopathy with onset in infancy (SAVI), and Aicardi-Goutières syndrome (AGS) arerare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targetedtreatments, a Task Force was charged with the development of“points to consider”to improve diagnosis, treatment,and long-term monitoring of patients with these rare diseases.Methods.Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists,patient advocates, and an allied health care professional formulated research questions for a systematic literaturereview. Then, based on literature, Delphi questionnaires, and consensus methodology,“points to consider”to guidepatient management were developed.Results.The Task Force devised consensus and evidence-based guidance of 4 overarching principles and17 points to consider regarding the diagnosis, treatment, and long-term monitoring of patients with the autoinflamma-tory interferonopathies, CANDLE/PRAAS, SAVI, and AGS.Conclusion.These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treat-ment, and management of patients with CANDLE/PRAAS, SAVI, and AGS and aim to standardize and improve care,quality of life, and disease outcomes.
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Citation
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS. Arthritis Rheumatol. 2022 Mar 21. doi: 10.1002/art.42087.
Keywords
Autoinflammatory Type I Interferonopathies, Diagnosis and Management