NLRP3mutation, N = 13 | |
---|---|
Clinical symptoms | |
Constitutional symptoms | |
Fatigue | 13 (100%) |
Recurrent fever | 4 (31%) |
Organ-specific symptoms | |
Headache | 7 (54%) |
Ocular symptoms: | 11 (85%) |
■ Conjunctivitis | 10 (77%) |
■ Uveitis | 2 (15%) |
■ Papillary edema | 0 |
■ Opticus neuritis | 1 (8%) |
Sensorineural hearing loss | 12 (92%) |
Oral ulcers | 6 (46%) |
Pericarditis | 3 (23%) |
Abdominal pain | 4 (31%) |
Renal disease/proteinuria | 10 (77%) |
Musculoskeletal symptoms: | 11 (85%) |
■ Arthralgias | 11 (85%) |
■ Arthritis | 9 (69%) |
■ Myalgias | 7 (54%) |
Skin symptoms: | 7 (54%) |
■ Erythematous rash | 7 (54%) |
■ Cold-induced urticaria | 0 |
MWS Disease Activity Score (MWS-DAS) | |
Mean MWS-DAS (range) | 9.6 (4-14) |
mild (< 10) | 5 (38%) |
severe (≥ 10) | 8 (62%) |
Global measures of health (patient-derived) | |
Patient Global Health Score VAS (mean and stdv) | 4.77 (2.20) |
Patient Mood Score VAS (mean and stdv) | 2.08 (0.49) |
Patient Performance global score Global VAS (10 = severe) (mean and stdv) | 5.85 (2.15) |
Physician Global Assessment Score VAS (mean and stdv) | 5.85 (1.52) |