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Table 2 Clinical features of all patients with the NLRP3 E311K mutation

From: NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment

  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)
  1. MWS, Muckle-Wells syndrome; MWS-DAS, MWS Disease Activity Score; NLRP3, NLR family, pyrin domain containing 3; stdv, standard deviation; VAS, visual analogue scale;