Table 3.

Clinical manifestations of patients with E84K heterozygous mutation.

CaseAge, yrsSex, Age at Onset, yrsFeverSynovitis (arthritis)SerositisOther Clinical SymptomsResponse to ColchicineAdditional MutationFMF CriteriaOutcomeConcomitant Rheumatic Diseases
Group 1: typical FMF
  Case 114M 14+PeritonitisMyalgiaGoodTypicalImproved (colchicine)
  Case 244M 40++MyalgiaGoodTypicalImproved (colchicine)
  Case 319F 17++PeritonitisUntreatedTypicalRemitted
  Case 446F 18++OsteomyelitisGoodTypicalImproved (colchicine)
Group 2: probable FMF
  Case 517F 14+PeritonitisGoodProbableImproved (colchicine)
  Case 628M 15++UntreatedProbableRemitted
Group 3: undifferentiated
  Case 719F 19+ NTUntreatedE148Q/–Remitted
  Case 89M 8+ NTNo responseE148Q/L110PSustained
  Case 945M 41+ NT+MyalgiaUntreatedNA
Group 4: other rheumatic disease
  Case 1059F 58+ NT+MyalgiaUntreatedDeath (infection)SLE + SSc
  Case 116M 6+Stomatitis, cervical lymphadenopathyUntreatedRemittedPFAPA
  Case 1250F 41+ NT+UntreatedE148Q/L110PSustainedAOSD
  • FMF: familial Mediterranean fever; AOSD: adult-onset Still’s disease; NA: not available; NT: not typical; PFAPA: periodic fever with aphthous pharyngitis and adenitis; SLE: systemic lupus erythematosus; SSc: systemic sclerosis.