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    • The Assessment of Autoinflammatory Disease Classification Criteria (eurofever/printo) in a Real-Life Cohort

    Şengül Çağlayan,Gizem Mardinoğlu, Murat Hakkı Yarar,Kadir Ulu,Taner Coşkuner,Ramazan Emre Yiğit,Gülcan Özomay Baykal,Şeyma Türkmen,Mustafa Çakan,Ferhat Demir,Betül Sözeri

    Clinical Rheumatology（2023）SCI 3区SCI 4区

    University of Health Sciences

    Cited 2|Views24
    Abstract
    Objective The aim of the study was to determine the sensitivity and specificity rates of Eurofever/PRINTO autoinflammatory recurrent fever classification criteria with real-life data in patients with an autoinflammatory disease. Methods A total of 119 patients were included in the study. Based on clinical symptoms, they were divided into four subgroups: cryopyrin-associated periodic syndromes (CAPS), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), and syndrome of undifferentiated recurrent fever (SURF) using the Eurofever/PRINTO clinical classification criteria. In the last step, the patients were re-evaluated in the light of genetic results and their final diagnosis was reached. Results A total of 119 patients, including 37 CAPS, 13 TRAPS, 8 MKD, 39 SURF, 14 NLRP12-related autoinflammatory disease (NLRP12-AID), and 8 familial Mediterranean fever (FMF) patients were evaluated in the study. While the sensitivity of the new clinical Eurofever/PRINTO criteria was 48% for CAPS, 77% for TRAPS, 87.5%for MKD, and the specificity of the clinical criteria was 86% for CAPS, 85% for TRAPS, and 60% for MKD. The sensitivity of the new mixed (genetic plus clinical variables) Eurofever/PRINTO criteria was 27% for CAPS, 61% forTRAPS, 85% for MKD, and the specificity of the mixed criteria for each group was 100%. Conclusion We found the sensitivity of the Eurofever/PRINTO classification criteria to be low as genotypic changes between populations cause phenotypic differences. For this reason, we think that patient-based evaluation is correct rather than standard classification criteria in real life. Key-points • In systemic autoinflammatory diseases, common variants in the populations may alter the phenotype, and making it difficult to classify some patients with the current classification criteria . • In populations with common genetic variants, the classification criteria should be modified according to the clinical phenotype .
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    Key words
    Autoinflammatory diseases,Classification criteria,Hereditary recurrent fevers
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    【要点】：本研究评估了Eurofever/PRINTO自免性疾病分类标准在真实世界队列中的敏感性和特异性，发现其敏感性较低，建议根据临床表型调整分类标准。
    

    【方法】：通过临床症状将119名患者分为四组，利用Eurofever/PRINTO临床分类标准，并在遗传结果基础上重新评估最终诊断。
    

    【实验】：研究共评估了119名患者，包括37例CAPS、13例TRAPS、8例MKD、39例SURF、14例NLRP12-AID和8例FMF患者。结果显示，新的Eurofever/PRINTO临床标准的敏感性分别为CAPS 48%、TRAPS 77%、MKD 87.5%，特异性分别为CAPS 86%、TRAPS 85%、MKD 60%。混合（遗传加临床变量）标准的敏感性分别为CAPS 27%、TRAPS 61%、MKD 85%，特异性均为100%。