Clinical manifestations of patients with E84K heterozygous mutation.
| Case | Age, yrs | Sex, Age at Onset, yrs | Fever | Synovitis (arthritis) | Serositis | Other Clinical Symptoms | Response to Colchicine | Additional Mutation | FMF Criteria | Outcome | Concomitant Rheumatic Diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Group 1: typical FMF | |||||||||||
| Case 1 | 14 | M 14 | + | — | Peritonitis | Myalgia | Good | — | Typical | Improved (colchicine) | — |
| Case 2 | 44 | M 40 | + | + | — | Myalgia | Good | — | Typical | Improved (colchicine) | — |
| Case 3 | 19 | F 17 | + | + | Peritonitis | — | Untreated | — | Typical | Remitted | — |
| Case 4 | 46 | F 18 | + | + | — | Osteomyelitis | Good | — | Typical | Improved (colchicine) | — |
| Group 2: probable FMF | |||||||||||
| Case 5 | 17 | F 14 | – | + | Peritonitis | — | Good | — | Probable | Improved (colchicine) | — |
| Case 6 | 28 | M 15 | + | + | — | — | Untreated | — | Probable | Remitted | — |
| Group 3: undifferentiated | |||||||||||
| Case 7 | 19 | F 19 | + NT | — | — | — | Untreated | E148Q/– | — | Remitted | — |
| Case 8 | 9 | M 8 | + NT | — | — | — | No response | E148Q/L110P | — | Sustained | — |
| Case 9 | 45 | M 41 | + NT | + | — | Myalgia | Untreated | — | — | NA | — |
| Group 4: other rheumatic disease | |||||||||||
| Case 10 | 59 | F 58 | + NT | + | — | Myalgia | Untreated | — | — | Death (infection) | SLE + SSc |
| Case 11 | 6 | M 6 | + | — | — | Stomatitis, cervical lymphadenopathy | Untreated | — | — | Remitted | PFAPA |
| Case 12 | 50 | F 41 | + NT | + | — | — | Untreated | E148Q/L110P | — | Sustained | AOSD |
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.