Table 1

Summary of clinical features, investigations and treatments

Current age55565042 years60 years
Age at first presentation3553Age 40 years—RA
Age 49 years—autoinflammatory features
40 years43 years
Autoimmune screenANA
RF+++Positive initially
ANCA-Positive on one occasion, antimyeloperoxidase antibodies detected. Repeated ANCA have been negative on several occasions.
Genetic testShared epitopeDRB1*04:01 and *04:08DRB1*01:01 homozygousDRB1*04:01 and *04:04DRB1*04:01 homozygousDRB1*04:01 and *04:08
NLRP3c973C>T (pArg325Trp)NilnilNilNil
MEFVNilc289C>T (pGln97*), c605G>A (pArg202Gln)nilNilNil
NOD2NilNilc2722G>C (pGly908Arg)c2104 C>T (pArg702Trp)Nil
Other investigationsHighest CRP in the absence of infection (mg/l)150426120070
NeutrophiliaIntermittently, during uncontrolled disease episodesIntermittentlyYes, persistently raisedYes, during acute flaresNo
X-rayMild erosive changesDegenerative changes onlyNormal, MRI showed inflammationDegenerative changes, but no erosions
Skin biopsyConfirmed as lichen planusUlcerated epidermis with collections of neutrophils on the surfaceNot doneNot doneNot done
Clinical featuresFevers+++
Skin rash+, confirmed as lichen planus on biopsy+Profound erythema at sites of synovitis+Erythema at sites of synovitis
Serositis-Possible—one hospital episode with symptoms consistent with meningism. A lumbar puncture aspirate was sterile.+ pericarditis, pleuritis (confirmed with echocardiogram and CT)
TreatmentCorticosteroidsYes, good responseYes, good responseYes—good responseYes—good responseYes—partial response
ColchicineYes, no responseYes, partial response stopped due to side effectsYes—good responseYes—excellent response with normalisation of CRPYes—excellent clinical response
MethotrexateYes, partial response, developed RA-like flare when stopped due to intoleranceYes, good responseYes—partial, stopped due to intoleranceYes—partial responseYes—partial response
anti-TNFYes, response initially, but secondary non-response to etanarceptNoNoNoNo
anti-IL-6Yes, partial response, normalisation of CRP onlyNoNoNoNo
anti-IL-1Complete response to anakinra, although non-response to canakinumabNoNoNoNo
OtherHydroxychloroquine, sulfasalazineSulfasalazine—partial responseSulfasalazine, hydroxychloroquine—partial response
  • ACPA, anticitrullinated protein antibody; ANA, antinuclear antibody; ANCA, antineutrophil cytoplasmic antibody; Nil, means that no rare variants were found in these genes; RA, rheumatoid arthritis; RF, rheumatoid factor.