Volume 13 Supplement 1

8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases

Open Access

Anakinra as a diagnostic challenge and treatment option for systemic autoinflammatory disorders of undefined genetic cause

  • S Harrison1,
  • S Nizam2,
  • M McDermot1,
  • D McGonagle1 and
  • S Savic1, 3
Pediatric Rheumatology201513(Suppl 1):P189

https://doi.org/10.1186/1546-0096-13-S1-P189

Published: 28 September 2015

Background

Diverse monogenic autoinflammatory diseases share responsiveness to interleukin (IL)-1 blockade. This study explored the utility of anakinra (an IL-1 receptor antagonist) as a treatment option for clinically heterogeneous systemic inflammatory disease with autoinflammatory presentations where a genetic cause was not defined.

Methods

A total of ten adult cases with ongoing inflammatory episodes, where alternative diagnoses, including malignancy and infection, were evaluated. Genetic screening was also performed to exclude known genetic causes of autoinflammatory disorders (e.g. cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), etc.)

Results

All patients had presentations that were atypical of recognised autoinflammatory disorders and all were negative on genetic screening. Eight of ten cases showed rapid responsiveness to anakinra with the ability to subsequently taper alternative immunosuppression. Good responses to anakinra were maintained with inadvertent drug discontinuation being linked to disease flares.

Conclusions

The spectrum of poorly defined clinical and genetic autoinflammatory disorders that show responsiveness to anakinra is considerable. In fact, responsiveness to anakinra appears to be useful in diagnosis given the characteristically rapid onset of efficacy and symptomatic improvement.

Authors’ Affiliations

(1)
Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds
(2)
Department of Rheumatology, Pinderfields Hospital
(3)
Clinical Immunology and Allergy, Leeds Teaching Hospitals NHS Trust

Copyright

© Harrison et al. 2015

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.

Advertisement