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
Journal
Annals of the Rheumatic Diseases
ISSN
0003-4967
1468-2060
Date Issued
2022
Author(s)
Kader Cetin Gedik
Lovro Lamot
Micol Romano
Erkan Demirkaya
David Piskin
Sofia Torreggiani
Laura A Adang
Thais Armangue
Kathe Barchus
Devon R Cordova
Yanick J Crow
Russell C Dale
Karen L Durrant
Despina Eleftheriou
Elisa M Fazzi
Marco Gattorno
Francesco Gavazzi
Eric P Hanson
Min Ae Lee-Kirsch
Gina A Montealegre Sanchez
Bénédicte Neven
Simona Orcesi
Seza Ozen
Elliot Schumacher
Davide Tonduti
Katsiaryna Uss
Daniel Aletaha
Brian M Feldman
Adeline Vanderver
Paul A Brogan
Raphaela Goldbach-Mansky
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Abstract
<jats:sec><jats:title>Objective</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>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.</jats:p></jats:sec>
Cite this document
Cetin Gedik, K., Lamot, L., Romano, M., Demirkaya, E., Piskin, D., Torreggiani, S., Adang, L. A., Armangue, T., Barchus, K., Cordova, D. R., Crow, Y. J., Dale, R. C., Durrant, K. L., Eleftheriou, D., Fazzi, E. M., Gattorno, M., Gavazzi, F., Hanson, E. P., Lee-Kirsch, M. A., … Goldbach-Mansky, R. (2022). 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. Annals of the Rheumatic Diseases, 81(5), 601-613. https://doi.org/10.1136/annrheumdis-2021-221814
Subjects
inflammation
;
polymorphism
;
genetic
;
immune system diseases
;
autoimmune diseases of the nervous system
;
erythema nodosum
;
fingers
;
humans
;
nervous system malformations
;
quality of life
;
rheumatology
;
skin diseases
;
aicardi goutieres syndrome
;
article
;
autoinflammatory type i interferonopathy
;
genetic analysis
;
health care personnel
;
human
;
interferonopathy
;
rare disease
;
stimulator of interferon gene associated vasculopathy with onset in infancy
;
erythema nodosum
;
finger
;
nervous system malformation
;
neurologic disease
;
quality of life
;
rheumatology
;
skin disease