Empiric treatment for persistent fever from suspected autoinflammatory disease: Experience from an undiagnosed diseases program.
Autoinflammatory disease
Colchicine
Fever of unknown origin
Interleukin 1 receptor antagonists
Journal
The American journal of the medical sciences
ISSN: 1538-2990
Titre abrégé: Am J Med Sci
Pays: United States
ID NLM: 0370506
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
received:
21
03
2022
revised:
05
03
2023
accepted:
05
04
2023
medline:
12
6
2023
pubmed:
17
4
2023
entrez:
16
4
2023
Statut:
ppublish
Résumé
Patients with persistent fevers of undetermined etiology often undergo extensive evaluation without a diagnosis. Autoinflammatory syndromes may not always be considered in the differential, as these are rare entities, there are no consensus clinical criteria and genetic testing can only capture a few of these diseases. We aimed to describe the experience and value of an undiagnosed diseases program in the evaluation and management of patients who present with persistent fevers. A retrospective analysis was performed on eleven patients who presented with persistent fevers to the Undiagnosed Diseases Program (UDP) at University of Alabama at Birmingham. All patients received extensive testing prior to referral and were seen by multiple subspecialists. The primary outcome of complete remission was resolution of episodes of fever and malaise in response to empiric biological anti-inflammatory treatment. All patients received genetic testing and further diagnostic evaluation by the UDP. Even without confirmed genetic testing, they were empirically started on anti-inflammatory therapies (including colchicine, IL-1 inhibitors, IL-6 inhibitors). Ten patients have achieved complete remission on empiric treatment. Three patients were given formal diagnoses. No patients have had any major adverse events from therapy. This is a pilot study suggesting the role for empiric treatment trials of biologics for patients with suspected autoinflammatory diseases. As the differential diagnosis of patients with persistent fevers is broad, and the diagnosis of autoinflammatory diseases often comes with some degree of uncertainty, evaluation by a center with expertise in diagnosing these conditions can help determine which patients should have empiric trials of biologics.
Sections du résumé
BACKGROUND
Patients with persistent fevers of undetermined etiology often undergo extensive evaluation without a diagnosis. Autoinflammatory syndromes may not always be considered in the differential, as these are rare entities, there are no consensus clinical criteria and genetic testing can only capture a few of these diseases. We aimed to describe the experience and value of an undiagnosed diseases program in the evaluation and management of patients who present with persistent fevers.
METHODS
A retrospective analysis was performed on eleven patients who presented with persistent fevers to the Undiagnosed Diseases Program (UDP) at University of Alabama at Birmingham. All patients received extensive testing prior to referral and were seen by multiple subspecialists. The primary outcome of complete remission was resolution of episodes of fever and malaise in response to empiric biological anti-inflammatory treatment.
RESULTS
All patients received genetic testing and further diagnostic evaluation by the UDP. Even without confirmed genetic testing, they were empirically started on anti-inflammatory therapies (including colchicine, IL-1 inhibitors, IL-6 inhibitors). Ten patients have achieved complete remission on empiric treatment. Three patients were given formal diagnoses. No patients have had any major adverse events from therapy.
CONCLUSIONS
This is a pilot study suggesting the role for empiric treatment trials of biologics for patients with suspected autoinflammatory diseases. As the differential diagnosis of patients with persistent fevers is broad, and the diagnosis of autoinflammatory diseases often comes with some degree of uncertainty, evaluation by a center with expertise in diagnosing these conditions can help determine which patients should have empiric trials of biologics.
Identifiants
pubmed: 37062430
pii: S0002-9629(23)01134-5
doi: 10.1016/j.amjms.2023.04.008
pii:
doi:
Substances chimiques
Biological Products
0
Uridine Diphosphate
58-98-0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
71-75Informations de copyright
Copyright © 2023 Southern Society for Clinical Investigation. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None.