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.
Ann Rheum Dis
; 81(5): 601-613, 2022 05.
Article
in English
| MEDLINE | ID: covidwho-1784782
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.Keywords
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Rheumatology
/
Skin Diseases
/
Autoimmune Diseases of the Nervous System
/
Nervous System Malformations
Type of study:
Experimental Studies
/
Observational study
/
Prognostic study
/
Qualitative research
/
Reviews
/
Systematic review/Meta Analysis
Limits:
Humans
Language:
English
Journal:
Ann Rheum Dis
Year:
2022
Document Type:
Article
Affiliation country:
Annrheumdis-2021-221814
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