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Table 2 Misdiagnosis in Fabry disease patients

From: Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients

 Total
N = 37
Males
N = 16
Females
N = 21
Mutationsp-value
Misdiagnosis – overall, n (%)24 (64.8%)11 (68.8%)13 (61.9%) 0.68
Patients diagnosed with any rheumatologic condition before Fabry Disease diagnosis, n (%)19 (51.4%)10 (62.5%)9 (42.9%) 0.25
Rheumatic fever, n (%)7 (18.9%)4 (25%)2 (9.5%)A156D
P293S
Y264SX (5)
“Rheumatism” (unspecified rheumatic disorder), n (%)8 (21.6%)4 (25%)4 (19%)A156D (3)
C142R (3)
Y264SX (2)
Rheumatoid arthritis, n (%)1 (2.7%)01 (4.8%)W262X
Fibromyalgia, n (%)2 (5.4%)1 (6.3%)1 (4.8%)G271A
Growing pains, n (%)3 (8.1%)2 (12.5%)1 (4.8%)A156D (2)
G271A
Systemic sclerosis, n (%)1 (2.7%)1 (6.3%)0Y264SX
Tendinopathy, n (%)1 (2.7%)01 (4.8%)G271A
Carpal tunnel syndrome, n (%)1 (2.7%)01 (4.8%)G271A
Patients diagnosed with other conditions before Fabry Disease diagnosis, n (%)9 (24.3%)3 (18.8%)6 (28.6%) 0.50
Heart murmur, n (%)1 (2.7%)1 (6.3%)0Y264SX
Diabetes mellitus, n (%)1 (2.7%)01 (4.8%)L180F
Ischemic cardiomyopathy, n (%)1 (2.7%)01 (4.8%)C142R
Migraine, n (%)3 (8.1%)03C142R
G271A
W262X
0.13
Fever of unknown origin, n (%)1 (2.7%)01 (4.8%)A156D
Focal and segmental glomerulosclerosis, n (%)1 (2.7%)1 (6.3%)0L180F
Dysmenorrhea, n (%)1 (2.7%)01 (4.8%)W262X
Ulcerative colitis, n (%)1 (2.7%)1 (6.3%)0P293S
  1. Patients may have been misdiagnosed more than once – percentage of the total number of diagnoses is not equal to 100%