Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.

Details

Serval ID
serval:BIB_71A644248AB8
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.
Journal
Rheumatology
Author(s)
Dingulu G., Georgin-Lavialle S., Koné-Paut I., Pillet P., Pagnier A., Merlin E., Kaiser D., Belot A., Hofer M., Hentgen V.
ISSN
1462-0332 (Electronic)
ISSN-L
1462-0324
Publication state
Published
Issued date
01/10/2020
Peer-reviewed
Oui
Volume
59
Number
10
Pages
2947-2952
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
The new classification criteria for the hereditary recurrent fever (HRF) syndrome [cryopyrin-associated periodic syndrome (CAPS), TNF-α receptor-associated periodic syndrome (TRAPS), FMF and mevalonate kinase deficiency] have been published recently. These criteria define two core sets of criteria for each HRF: mixed criteria, including genetic and clinical variables, and clinical criteria, relying on clinical variables only. Our aim was to validate the criteria for HRF in an independent cohort, the JIR Cohort database, an international repository of systemic inflammatory diseases.
We enrolled patients with HRF, periodic fever, adenitis, pharyngitis and aphthous stomatitis syndrome (PFAPA) and syndrome of undefined recurrent fever (SURF). A score ranging from zero to two was attributed to their respective genotypes: zero (no mutation), one (non-confirmatory genotype) or two (confirmatory genotype). The criteria were applied to all patients based on genotype scoring. The treating physician's diagnosis served as the gold standard for the determination of specificity.
We included 455 patients. The classification criteria showed excellent specificity for CAPS and TRAPS (98% specificity each), fair specificity for FMF (88%), but poor specificity for mevalonate kinase deficiency (58%). Sub-analysis showed excellent accuracy of the mixed criteria for all four HRFs. Misclassification was mainly attributable to clinical criteria sets, with false-positive patients in all four HRF clinical criteria sets.
This study represents the final validation step of the HRF classification criteria as recommended by the ACR. Genetic data appear to be necessary to classify patients with HRF correctly.
Keywords
TNF-α, classification criteria, cryopyrin-associated periodic syndrome, familial Mediterranean fever, hereditary recurrent fever, mevalonate kinase deficiency, receptor-associated periodic syndrome
Pubmed
Web of science
Create date
05/03/2020 15:07
Last modification date
06/01/2021 6:25
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