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
National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland.
University of Zagreb School of Medicine, Zagreb, Croatia.
Arthritis Rheumatol. 2022 May;74(5):735-751. doi: 10.1002/art.42087. Epub 2022 Mar 21.
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.
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.
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.
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.
自身炎症性I型干扰素病、伴有脂肪营养不良和体温升高的慢性非典型嗜中性皮病/蛋白酶体相关自身炎症综合征（CANDLE/PRAAS）、婴儿期起病的干扰素基因刺激物（STING）相关血管病（SAVI）以及艾卡迪-古铁雷斯综合征（AGS）是罕见且临床复杂的免疫调节异常疾病。随着对遗传病因和靶向治疗的认识不断增加，一个特别工作组负责制定“要点考虑”，以改善这些罕见病患者的诊断、治疗和长期监测。
由风湿病学家、神经学家、免疫学家、遗传学家、患者权益倡导者和一名专职医护人员组成的特别工作组的成员为系统文献综述制定了研究问题。然后，基于文献、德尔菲问卷和共识方法，制定了指导患者管理的“要点考虑”。
特别工作组针对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项要点考虑的共识及循证指南。
这些要点考虑代表了指导CANDLE/PRAAS、SAVI和AGS患者诊断评估、治疗和管理的最新知识，旨在规范和改善护理、生活质量及疾病转归。
