Table 1.

Clinical characteristics of the mutation-positive patients.

Patient No. and OriginSexAge, yrsEpisodes with TRAPS-related SymptomsAcute-phase Response MarkersAutoimmune DiseaseFamily HistoryTherapy
IP1
GermanF22Arthralgias, migraine, mild fever episodes, of fatigueIntermittent elevation TNF-α, ESR, CRP, SAARRMSPosNSAID
F1
GermanM50Migraine, fatigueNKRRMSNone
S1.1
GermanF19Arthralgias, abdominal pain, bifrontal headachesIntermittent elevation of TNF-α, CRP, SAANoneNSAID
S1.2
GermanF9Abdominal painIntermittent elevation of CRP, ESR, SAANoneNone
B1
GermanM11ArthralgiasESR elevationNoneNone
IP2
AustrianF28Arthralgias, arthritis, abdominal pain, diarrhea, conjunctivitisIntermittent elevation of CRP, ESR, SAA, TNF-α, IL-6, RF-positiveRA, RRMSPosNSAID, oral steroids, MTX, LEF
D2
AustrianF8Arthralgias, abdominal pain, diarrheaNKNoneNone
IP3
GermanF37Arthralgias, myalgias, eyelid edema, bifrontal headaches, abdominal pain, fatigueCRP, ESR, SAA normalRRMSPos*NSAID, oral steroids, glatiramer acetate (for RRMS)
  • * Index patient 3 family history with RA in 1 grandmother, 2 sisters with arthralgias, 1 sister with possible MS. IP: index patient; F: father; S: sister; B: brother; D: daughter (for example, S1.1 = first sister of index patient 1); CRP: C-reactive protein; SAA: serum amyloid A; ESR: erythrocyte sedimentation rate; RF: rheumatoid factor; IL-6: interleukin 6; TNF-α: tumor necrosis factor; RRMS: relapsing-remitting multiple sclerosis; RA: rheumatoid arthritis; NK: not known; NSAID: nonsteroidal antiinflammatory drug.