- Poster presentation
- Open Access
Perspective validation of the eurofever classification criteria for monogenic periodic fevers
https://doi.org/10.1186/1546-0096-12-S1-P82
© Federici et al; licensee BioMed Central Ltd. 2014
- Published: 17 September 2014
Keywords
- Adult Patient
- Genetic Test
- Lower Sensitivity
- Good Accuracy
- High Specificity
Introduction
We recently proposed a set of provisional, evidence-based, clinical criteria for the classification of children and adults patients affected by monogenic periodic fevers. These criteria, built and validated in a cohort of 1215 patients with periodic fever enrolled in the Eurofever Registry from November 2009 to February 2013, displayed a high sensitivity and specificity.
Objectives
To prospectively validate the provisional Eurofever clinical classification criteria in an independent set of patients with periodic fevers enrolled in the registry after March 2013
Methods
The provisional Eurofever classification criteria (best accuracy cut-off) were applied to patients with periodic fevers enrolled in the registry after March 2013. The following disease were analyzed: FMF, MKD, TRAPS, CAPS, PFAPA and undefined periodic fevers. Patients were divided in three subgroups: i) group A: inherited periodic fevers with genetic confirmation, ii) group B: inherited periodic fevers with non-confirmatory genetic test, iii) group C: negative controls. Statistical analysis compared the sensitivity and specificity of best accuracy cut-off in patients belonging to group A and C.
Results
Table 1
Sensitivity (Best Accuracy cut-off) | Specificity (Best Accuracy cut-off) | |||||||
|---|---|---|---|---|---|---|---|---|
FMF | MKD | CAPS | TRAPS | FMF | MKD | CAPS | TRAPS | |
Genetically confirmed (Group A) | 85% | 92% | 100% | 100% | 92% | 89% | 96% | 93% |
Not genetically confirmed (Group B) | 58% | 67% | 45% | 25% | 94% | 79% | 100% | 82% |
Conclusion
Perspective validation of Eurofever classification criteria showed their good accuracy in patients with confirmatory genetic test. Despite a lower sensitivity, the criteria displayed an high specificity in the classification of patients with non-confirmatory molecular test. In order to evaluate the actual accuracy of the classification criteria in this latter subgroup, an expert validation is currently ongoing.
Disclosure of interest
None declared.
Authors’ Affiliations
Copyright
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
