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

doi:10.1007/s10067-023-06557-0

The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort

Clin Rheumatol. 2023 Jun;42(6):1645-1653. doi: 10.1007/s10067-023-06557-0. Epub 2023 Feb 24.

Affiliations

¹ Department of Pediatric Rheumatology, Umraniye Training and Research Hospital, University of Health Sciences, Elmalıkent District, Adem Yavuz Street, 34764, Umraniye, Istanbul, Turkey. sengulturkercaglayan@gmail.com.
² Department of Pediatric Rheumatology, Umraniye Training and Research Hospital, University of Health Sciences, Elmalıkent District, Adem Yavuz Street, 34764, Umraniye, Istanbul, Turkey.
³ Department of Clinical Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.

PMID: 36826737
DOI: 10.1007/s10067-023-06557-0

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.

Keywords: Autoinflammatory diseases; Classification criteria; Hereditary recurrent fevers.

MeSH terms

Cryopyrin-Associated Periodic Syndromes* / diagnosis
Cryopyrin-Associated Periodic Syndromes* / genetics
Familial Mediterranean Fever* / diagnosis
Familial Mediterranean Fever* / genetics
Hereditary Autoinflammatory Diseases* / diagnosis
Hereditary Autoinflammatory Diseases* / genetics
Humans
Mevalonate Kinase Deficiency* / diagnosis
Mevalonate Kinase Deficiency* / genetics
Sensitivity and Specificity