Table 1.
Demographic, clinical, and laboratory features of patients with R92Q variant in our study series.
| A | B | C | p Value (A vs. B) | |
|---|---|---|---|---|
| R92Q patients with pediatric onset (n = 11) | R92Q patients with adult onset (n = 7) | All R92Q patients (n = 18) | ||
| Demographic data | ||||
| Sex (female/male) | 4/7 | 5/2 | 9/9 | 0.34 |
| Age at symptoms onset (years) | 7.6; 8 (1–15) | 25; 23 (16–43) | 14.3; 12 (1–43) | 0.004 |
| Age at diagnosis (years) | 12; 12 (5–16) | 31; 25 (16–48) | 19; 16 (5–48) | 0.015 |
| Time from disease onset to diagnosis (years) | 4.1; 4 (0.3–9) | 5.8; 2 (0.3–25) | 5; 3 (0.3–25) | 0.65 |
| Follow-up (years) | 6.2; 6 (2–10) | 4; 5 (1–8) | 5.4; 5.5 (1–10) | 0.18 |
| Positive family history | 4 (36) | 1 (14) | 5 (28) | 0.60 |
| TRAPS Eurofever classification criteriaa | 4 (36) | 6 (86) | 10 (56) | 0.066 |
| Clinical featuresb | ||||
| Fever (≥38°C) | 11 (100) | 7 (100) | 17 (100) | 1 |
| Asthenia/fatigue | 6 (55) | 2 (29) | 8 (44) | 0.37 |
| Arthralgia/arthritis | 6 (55) | 5 (71) | 11 (61) | 0.64 |
| Myalgia | 4 (36) | 3 (43) | 7 (39) | 1 |
| Abdominal pain | 5 (46) | 2 (29) | 7 (39) | 0.63 |
| Vomiting | 1 (9) | 0 (0) | 1 (6) | 1 |
| Chest (pleuro-pericardial) pain | 1 (9) | 3 (43) | 4 (22) | 0.25 |
| Skin rash | 2 (18) | 3 (43) | 5 (28) | 0.33 |
| Headache | 3 (27) | 3 (43) | 6 (33) | 0.63 |
| Conjunctivitis | 2 (18) | 1 (14) | 3 (17) | 1 |
| Periorbital edema | 1 (9) | 1 (14) | 2 (11) | 1 |
| Cervical adenitis | 3 (27) | 0 (0) | 3 (17) | 0.25 |
| Pharyngitis/odynophagia | 4 (36) | 2 (29) | 6 (33) | 1 |
| Oral aphthae | 2 (18) | 1 (14) | 3 (17) | 1 |
| Attacks characteristicsc | ||||
| Duration (days) | 22; 4 (2–160) | 35; 21 (4–90) | 27; 11 (2–160) | 0.056 |
| Frequency (per year) | 12; 6 (1.5–50) | 5; 6 (0.3–8) | 9; 6 (0.3–50) | 0.20 |
| Laboratory (during attacks)d | ||||
| CRP >1.5 mg/dL and/or SAA >6.4 mg/dL | 6/8 (75) | 6/7 (86) | 12/15 (80) | 1 |
| ESR >20 mm first hour | 4/8 (50) | 2/4 (50) | 6/12 (50) | 1 |
| Leukocyte count >11,000/mm3 | 3/8 (38) | 2/5 (40) | 5/13 (38) | 1 |
| Hemoglobin <120 mg/L | 2/8 (25) | 0/5 (0) | 2/13 (15) | 0.5 |
| Platelets count >350,000/mm3 | 0/7 (0) | 2/5 (40) | 2/12 (17) | 0.15 |
| Proteinuria (absence) at the end of follow-up | 10/10 (100) | 6/6 (100) | 15/15 (100) | 1 |
| Other studied genes (negative/performed) | ||||
| MEFV | 11/11 (100) | 6/6 (100) | 17/17 (100) | 1 |
| MVK | 9/9 (100) | 7/7 (100) | 16/16 (100) | 1 |
| NLRP3 | 8/8 (100) | 6/6 (100) | 14/14 (100) | 1 |
CRP, C-reactive protein; ESR, erythrocyte sedimentation rate; MEFV, Mediterranean fever gene; MVK, mevalonate kinase gene; NLRP3, nod-like receptor family pyrin domain containing 3 gene; TRAPS, tumor necrosis factor receptor-associated periodic syndrome.
Continuous values are given as mean; median (range).
aPatients achieving provisional Eurofever classification criteria for TRAPS (9).
bValues as total number of patients and %.
cBecause a remarkable intrasubject variability with regard to duration and frequency of attacks was found in the majority of patients, only the highest values were used for calculations.
dAbnormal values during attacks, later normalized (from available results).