The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.
Clin Rheumatol
; 42(6): 1645-1653, 2023 Jun.
Article
em En
| MEDLINE
| ID: mdl-36826737
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Febre Familiar do Mediterrâneo
/
Deficiência de Mevalonato Quinase
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Doenças Hereditárias Autoinflamatórias
/
Síndromes Periódicas Associadas à Criopirina
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Clin Rheumatol
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Turquia