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THU0534 NEWCLASSIFICATIONCRITERIA FORRECURRENTAUTOINFLAMMATORYDISEASES APPLIED TOAN INDEPENDENTCOHORT: EXPERIENCEFROM THE JIR COHORTDATABASE Glory DinguluSophie Georgin‐LavialleIsabelle Koné‐Paut2019 год

THU0534 NEW CLASSIFICATION CRITERIA FOR RECURRENT AUTOINFLAMMATORY DISEASES APPLIED TO AN INDEPENDENT COHORT: EXPERIENCE FROM THE JIR COHORT DATABASE
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Аннотация:

Background

New classification criteria for the inherited periodic fever syndromes (TRAPS, FMF, MKD and CAPS) have recently been developed during a Consensus Conference held in Genoa in March 2017.

Objectives

The aim of our study was to compare these new classification criteria for monogenic recurrent fever syndromes with the diagnoses of clinicians. For this purpose we used the JIRcohort database, an international platform gathering data of patients with pediatric inflammatory disease.

Methods

The Genoa classification criteria were applied to all the patients, then compared to the clinical diagnosis of the treating physician. As patient diagnosis could be confirmed or suspected, the patients could have up to two diagnoses. Classification criteria relied on genetical HRF pathogenicity classification. Finally, criteria performance were assessed by firstly determining sensitivity and specificity and secondly analyzing true positive, false positive and false negative patients.

Results

455 patients included to the JIRcohort database with a recurrent fever syndrome were enrolled to the study.

CAPS

The analysis of the performance of the CAPS criteria showed sensitivity of 60% and specificity of 98%. 14 patients fulfilled Genoa CAPS classification criteria, with 6 true positive and 8 false positive patients. Patients with confirmatory genotype always fulfilled classification criteria. 4 patients, who carried heterozygous mutations, were false negative.

TRAPS

The analysis of the performance of the TRAPS criteria showed sensitivity of 100% and specificity of 98%. 22 patients fulfilled Genoa TRAPS classification criteria, all true positive patients with confirmatory and non-confirmatory genotype. 5 were false negative with 4 patients with non-confirmatory genotype.

FMF

The analysis of the performance of the FMF criteria showed sensitivity of 96% and specificity of 89%. 118 patients were true positive while 35 were false positive patients. True positive patients were all patients with confirmatory genotype, patients with non-confirmatory genotype and no mutation. 37 were false positive patients. 5 patients were false negative with 3 patients with non-confirmatory genotype.

MKD

The analysis of the performance of the CAPS criteria showed sensitivity of 64% and specificity of 66%. 7 patients with confirmatory genotype were true positive patients. 148 were false positive patients with 44 patients diagnosed TRAPS, FMF, CAPS while the rest were SURF. 4 were false negative including 3 patients with non-confirmatory genotype.

Conclusion

This study is the first Genoa criteria evaluation among a cohort of patients seen with recurrent fever. This descriptive study shows tremendous performance Genoa criteria for patients with confirmatory genotype and help classifying patients with non-confirmatory genotype. On the other hand, those classification criteria were less performant when patients did not display at least one gene mutation. Therefore, Genoa classification criteria for TRAPS outperformed the others, because mandatory genetical screening. This study also highlights permissive criteria for clinical CAPS, FMF and MKD. The implementation of biological criteria in MKD would improve MKD criteria.

Disclosure of Interests: 

Glory DINGULU: None declared, Sophie Georgin-Lavialle Consultant for: novartis, sobi, Speakers bureau: novartis, sobi, Isabelle Koné-Paut Grant/research support from: SOBI has supported drug product (anakinra) for the presented study, Consultant for: SOBI, Novartis, Pfizer, Abbvie, UCB, CHUGAI, ROCHE, Pascal Pillet: None declared, Anne Pagnier: None declared, Etienne Merlin: None declared, Daniela Kayser: None declared, alexandre belot: None declared, Michael Hofer Grant/research support from: Sobi, Consultant for: Novartis, Véronique Hentgen Consultant for: SOBI, Novartis, Abbvie, Speakers bureau: Novartis 
Год издания: 2019
Авторы: Glory Dingulu, Sophie Georgin‐Lavialle, Isabelle Koné‐Paut, P. Pillet, Anne Pagnier, Étienne Merlin, Daniela Kayser, Alexandre Bélot, Michaël Hofer, Véronique Hentgen
Издательство: BMJ
Источник: Annals of the Rheumatic Diseases
Ключевые слова: Inflammasome and immune disorders, Immune Cell Function and Interaction, Pediatric health and respiratory diseases