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. Issue 5 (22nd February 2022)

• Record Type: Journal Article
• Authors: Cetin Gedik, Kader; Lamot, Lovro; Romano, Micol; Demirkaya, Erkan; Piskin, David; Torreggiani, Sofia; Adang, Laura A; Armangue, Thais; Barchus, Kathe; Cordova, Devon R; Crow, Yanick J; Dale, Russell C; Durrant, Karen L; Eleftheriou, Despina; Fazzi, Elisa M; Gattorno, Marco; Gavazzi, Francesco; Hanson, Eric P; Lee-Kirsch, Min Ae; Montealegre Sanchez, Gina A; Neven, Bénédicte; Orcesi, Simona; Ozen, Seza; Poli, M Cecilia; Schumacher, Elliot; Tonduti, Davide; Uss, Katsiaryna; Aletaha, Daniel; Feldman, Brian M; Vanderver, Adeline; Brogan, Paul A; Goldbach-Mansky, Raphaela;
• Is Part Of: Annals of the rheumatic diseases. Volume 81:Issue 5(2022)
• Page Start: 601
• Page End: 613
• Publication Date: 2022-02-22
• Subjects: inflammation -- polymorphism -- genetic -- immune system diseases; Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/annrheumdis-2021-221814
• Languages: English
• ISSNs: 0003-4967

Abstract

Abstract : Objective: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, 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 healthcare professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires and consensus methodology, 'points to consider' to guide patient management were developed. Results: The Task Force devised consensus and evidence-based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment and long-term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI and AGS. Conclusion: These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treatment and management of patients with CANDLE/PRAAS, SAVI and AGS and aim to standardise and improve care, quality of life and disease outcomes.