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2017 ; 3
(2
): e000550
Nephropedia Template TP
gab.com Text
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English Wikipedia
Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially
important subgroup of diseases
#MMPMID29177082
Savic S
; Mistry A
; Wilson AG
; Barcenas-Morales G
; Doffinger R
; Emery P
; McGonagle D
RMD Open
2017[]; 3
(2
): e000550
PMID29177082
show ga
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.