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
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
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DOI：
10.1002/art.42087
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发表时间：
2022-03-21
影响因子：
13.3
通讯作者：
Goldbach-Mansky, Raphaela
中科院分区：
文献类型：
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作者：
Gedik, Kader Cetin;Lamot, Lovro;Goldbach-Mansky, Raphaela
目的 自身炎症 I 型干扰素病、伴有脂肪营养不良和高温/蛋白酶体相关自身炎症综合征的慢性非典型中性粒细胞皮肤病 (CANDLE/PRAAS)、婴儿期发病的干扰素基因刺激物 (STING) 相关血管病 (SAVI) 和 Aicardi-Goutieres 综合征 (AGS) 是罕见且临床复杂的免疫失调疾病。随着对遗传原因和针对性治疗的了解不断涌现，一个工作组负责制定“需要考虑的要点”，以改善这些罕见疾病患者的诊断、治疗和长期监测。方法 由风湿病学家、神经病学家、免疫学家、遗传学家、患者倡导者和专职医疗保健专业人员组成的工作组成员提出了系统文献综述的研究问题。然后，根据文献、德尔菲问卷和共识方法，制定了指导患者管理的“考虑要点”。结果工作组就自身炎症性干扰素病、CANDLE/PRAAS、SAVI 和 AGS 患者的诊断、治疗和长期监测制定了 4 项总体原则和 17 点考虑的共识和循证指南。结论 这些需要考虑的要点代表了指导 CANDLE/PRAAS、SAVI 和 AGS 患者的诊断评估、治疗和管理的最新知识，旨在标准化和改善护理、生活质量和疾病结果。
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-Goutieres 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.