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 | Mutations | p-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%) | 0 | 1 (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%) | 0 | Y264SX | – |
Tendinopathy, n (%) | 1 (2.7%) | 0 | 1 (4.8%) | G271A | – |
Carpal tunnel syndrome, n (%) | 1 (2.7%) | 0 | 1 (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%) | 0 | Y264SX | – |
Diabetes mellitus, n (%) | 1 (2.7%) | 0 | 1 (4.8%) | L180F | – |
Ischemic cardiomyopathy, n (%) | 1 (2.7%) | 0 | 1 (4.8%) | C142R | – |
Migraine, n (%) | 3 (8.1%) | 0 | 3 | C142R G271A W262X | 0.13 |
Fever of unknown origin, n (%) | 1 (2.7%) | 0 | 1 (4.8%) | A156D | – |
Focal and segmental glomerulosclerosis, n (%) | 1 (2.7%) | 1 (6.3%) | 0 | L180F | – |
Dysmenorrhea, n (%) | 1 (2.7%) | 0 | 1 (4.8%) | W262X | – |
Ulcerative colitis, n (%) | 1 (2.7%) | 1 (6.3%) | 0 | P293S | – |