PT  - JOURNAL ARTICLE
AU  - Sinisa Savic
AU  - Anoop Mistry
AU  - Anthony G Wilson
AU  - Gabriela Barcenas-Morales
AU  - Rainer Doffinger
AU  - Paul Emery
AU  - Dennis McGonagle
TI  - Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases
AID  - 10.1136/rmdopen-2017-000550
DP  - 2017 Nov 01
TA  - RMD Open
PG  - e000550
VI  - 3
IP  - 2
4099  - http://rmdopen.bmj.com/content/3/2/e000550.short
4100  - http://rmdopen.bmj.com/content/3/2/e000550.full
SO  - RMD Open2017 Nov 01; 3
AB  - 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.