Naslov
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: <scp>CANDLE</scp> / <scp>PRAAS</scp> , <scp>SAVI</scp> , and <scp>AGS</scp>

Autori
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

Izvornik
Arthritis & Rheumatology (2326-5191) 74 (2022), 5; 735-751

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, stručni

Ključne riječi
Type I Interferonopathies ; CANDLE/PRAAS ; SAVI ; AGS ;

Sažetak
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 health care 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 standardize and improve care, quality of life, and disease outcomes.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA