Phenotypic features according to the M694V mutation.
| Features | M694V/M694V Group A: n = 63 (%) | M694V/Other Group B; n = 79 (%) | Other/Other Group C; n = 80 (%) | p |
|---|---|---|---|---|
| Demographic status | ||||
| Male/female | 35/28 | 36/43 | 32/48 | |
| Age of onset yrs, mean ± SD | 6.2 ± 3.6 | 5.6 ± 3.3 | 6.1 ± 3.4 | > 0.05** |
| Age at diagnosis, yrs, mean + SD | 8.6 ± 3.8 | 7.9 ± 3.2 | 8.8 ± 3.9 | > 0.05** |
| Delay in diagnosis of FMF, yrs, mean ± SD | 2.3 ± 2.5 | 2.3 ± 1.7 | 2.7 ± 2.1 | > 0.05** |
| Duration of followup, mo | 2.6 ± 1.5 | 2.5 ± 1.3 | 2.7 ± 1.6 | > 0.05** |
| Clinical feature | ||||
| Abdominal pain | 60 (95.2) | 73 (92.4) | 72 (90.0) | > 0.05* |
| Fever | 60 (95.2) | 70 (88.6) | 72 (90.0) | > 0.05* |
| Arthritis | 24 (38.1) | 36 (45.6) | 37 (46.3) | > 0.05* |
| Chest pain | 14 (22.2) | 12 (15.2) | 17 (21.3) | > 0.05* |
| Myalgia | 11 (17.5) | 16 (20.3) | 11 (13.8) | > 0.05* |
| Erysipelas-like erythema | 8 (12.7) | 5 (6.3) | 3 (3.8) | > 0.05* |
| Protracted febrile myalgia | 2 (3.2) | — | — | |
| Protracted arthritis | 1 (1.6) | 1 (1.2) | — | |
| Phenotype II | 2 (3.2) | — | ||
| Mean severity score | 9.07 ± 2.54 | 8.56 ± 2.42 | 8.31 ± 2.01 | > 0.05** |
| Proteinuria*** | 6 (9.8) | 6 (7.6) | 1 (1.3) | 0.024* |
| Amyloidosis | 5 (7.9) | — | — | |
| Renal transplant | 3 | — | — | |
| Endstage renal failure | 2 | — | — | |
| Association of other diseases with FMF | 5 (7.9) | 6 (6.7) | 4 (5.0) | > 0.05* |
| Misdiagnosis | ||||
| Appendectomy | 7 (11.1) | 4 (5.1) | 11 (13.8) | > 0.05* |
| Acute rheumatic fever | 3 (4.8) | 3 (3.8) | 4 (5.0) | > 0.05* |
| Consanguinity | 18 (28.6) | 23 (29.1) | 20 (25.0) | > 0.05* |
| Family history of FMF | 25 (39.7) | 44 (55.7) | 44 (55.0) | > 0.05* |
| Family history of amyloidosis | 6 (9.5) | 9 (11.4) | 7 (8.8) | > 0.05* |