ARD: Points to be considered for the diagnosis and management of autoinflammatory type I interferon disease (CANDLE/PRAAS, SAVI, and AGS) in the 2021 Consortium of European Societies of Rheumatology/American College of Rheumatology

 Purpose: Autoinflammatory type I interferon disease, chronic atypical neutrophilic skin disease with lipodystrophy and elevated body temperature / proteasome-associated autoinflammatory syndrome ( CANDLE/PRAAS ), stimulator of interferon genes ( STING ) Associated infantile-onset vascular disease ( SAVI ) and Aicardi-Goutières syndrome ( AGS ) are rare and clinically complex disorders of immune dysregulation .
As the understanding of genetic causes and targeted treatments continues to emerge , a task force is tasked with developing "points to consider" to improve the diagnosis, treatment and long-term monitoring of patients with these rare diseases .

 Purpose: Autoinflammatory type I interferon disease, chronic atypical neutrophilic skin disease with lipodystrophy and elevated body temperature / proteasome-associated autoinflammatory syndrome ( CANDLE/PRAAS ), stimulator of interferon genes ( STING ) Associated infantile-onset vascular disease ( SAVI ) and Aicardi-Goutières syndrome ( AGS ) are rare and clinically complex disorders of immune dysregulation .

As the understanding of genetic causes and targeted treatments continues to emerge , a task force is tasked with developing "points to consider" to improve the diagnosis, treatment and long-term monitoring of patients with these rare diseases .

METHODS: Members of a task force composed of rheumatologists, neurologists, immunologists, geneticists, patient advocates, and relevant healthcare professionals developed research questions for a systematic literature review
.

Then, based on the literature, the Delphi questionnaire, and consensus methods, 'points to consider' to guide patient management were developed

METHODS: Members of a task force composed of rheumatologists, neurologists, immunologists, geneticists, patient advocates, and relevant healthcare professionals developed research questions for a systematic literature review

RESULTS: The working group developed consensus and evidence-based guidelines on 4 overarching principles and 17 points for the diagnosis, treatment and long-term monitoring of patients with autoinflammatory interferon disease CANDLE/PRAAS , SAVI and AGS .
Principle 1: Patients with autoinflammatory interferon disease CANDLE/PRAAS , SAVI , or AGS have chronic systemic and organ-specific inflammation; if left untreated, chronic inflammation can lead to progressive organ damage and increased early morbidity and mortality .
Principle 2: Diagnosis of CANDLE/PRAAS , SAVI , and AGS requires a confirmed genetic diagnosis, which facilitates initiation of targeted therapy, genetic counseling, screening for complications, and informs prognosis .
Principle Three: The goals of treatment for type I interferon disease are to reduce systemic and organ inflammation to prevent or limit the development and / or progression of organ damage and damage , and to improve quality of life .
Principle four: In CANDLE/PRAAS , SAVI , or AGS , long-term monitoring of disease activity, organ-specific injury, and treatment-related complications is required by a multidisciplinary team .

Conclusions: These points for consideration represent the latest knowledge to guide the diagnostic evaluation, treatment, and management of patients with CANDLE/PRAAS , SAVI , and AGS , with the aim of standardizing and improving care, quality of life, and disease outcomes .

Conclusions: These points for consideration represent the latest knowledge to guide the diagnostic evaluation, treatment, and management of patients with CANDLE/PRAAS , SAVI , and AGS , with the aim of standardizing and improving care, quality of life, and disease outcomes .

Source: Cetin Gedik K, Lamot L, Romano M , et al .

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 DiseasesPublished Online First: 25 March 2022.
doi: 10.
1136/annrheumdis-2021-221814

Cetin Gedik K, Lamot L, Romano M , et al .
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  Published Online First: 25 March 2022.
doi: 10.
1136/annrheumdis-2021-221814 , et al Annals of the Rheumatic Diseases  comment here