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Autoinflammatory disorders
Clinical case
Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases
  1. Sinisa Savic1,2,3,
  2. Anoop Mistry2,
  3. Anthony G Wilson4,
  4. Gabriela Barcenas-Morales5,
  5. Rainer Doffinger6,7,
  6. Paul Emery1,3 and
  7. Dennis McGonagle1,3
  1. 1 Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, St James’s University Hospital, Leeds, UK
  2. 2 Department of Clinical Immunology and Allergy, Leeds Teaching Hospitals NHS Trust, St James’s University Hospital, Leeds, UK
  3. 3 NIHR Leeds Biomedical Research Centre, Leeds Teaching Hospitals NHS Trust, Leeds, UK
  4. 4 UCD School of Medicine and Medical Science, Conway Institute, University College, Dublin, Ireland
  5. 5 Laboratorio de Inmunologia, FES-Cuautitlan, UNAM, Cuautitlán Izcalli, Mexico
  6. 6 Department of Clinical Biochemistry and Immunology, Cambridge University Hospital NHS Trust, Cambridge, UK
  7. 7 NIHR Cambridge Biomedical Research Centre, Cambridge, UK
  1. Correspondence to Dr Sinisa Savic; s.savic{at}leeds.ac.uk and Dennis McGonagle; D.G.McGonagle{at}leeds.ac.uk

Abstract

At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype. Herein, we describe resistant cases of classical autoantibody associated RA that had clinical, genetic and therapeutic responses indicative of coexistent autoinflammatory disease. Five patients with clinically overlapping features between RA and SAID including polysynovitis and autoantibody/shared epitope positivity, and who had abrupt severe self-limiting attacks including fevers and serositis, are described. Mutations or single nucleotide polymorphisms in recognised autoinflammatory pathways were evident. Generally, these cases responded poorly to conventional Disease-modifying anti-rheumatic drugs (DMARD) treatment with some excellent responses to colchicine or interleukin 1 pathway blockade. A subgroup of RA cases have a mixed autoimmune-autoinflammatory phenotype and genotype with therapeutic implications.

  • rheumatoid arthritis
  • fever syndromes
  • cytokines
  • inflammation

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

https://doi.org/10.1136/rmdopen-2017-000550

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    Footnotes

    • Contributors All authors contributed towards writing of the study. SS, DM, PE and AGW contributed the cases. RD and GB-M conducted cytokine experiments.

    • Funding This work was supported by a grant form Sobi Pharmaceuticals, National Institute of Health Research (NIHR) Leeds Biomedical Research Centre, Cambridge Biomedical Research Centre and by grants from UNAM-DGAPAPAPIIT (IN217312 and IN220815) (GB-M).

    • Competing interests SS and DM have received honoraria from Sobi and Novartis for participation in advisory board meetings and for participating in pharma sponsored symposia.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data sharing statement There are no additional unpublished data available from this study