From: Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
Signs/Symptoms/Diagnosis | Total N (%) | Males N (%) | Females N (%) | p-value | A143T N (%) | R118C N (%) | p-value |
---|---|---|---|---|---|---|---|
Pain in the extremities (nociceptive and/or neuropathic) | 10 (52.6%) | 4 (50%) | 6 (54.5%) | 0.86 | 2 (50%) | 8 (53.3%) | 0.34 |
Fabry-like crises (past/present) | 4 (21.1%) | 0 | 4 (36.4%) | 0.06 | 3 (75%) | 1 (6.7%) | 0.001 |
Osteopenia/osteoporosis/ low bone mineral density for age | 11 (57.9%) | 5 (62.5%) | 6 (54.5%) | 0.75 | 3 (75%) | 8 (53.3%) | 0.46 |
Fibromyalgia | 7 (36.8%) | 1 (12.5%) | 6 (54.5%) | 0.07 | 3 (75%) | 4 (26.7%) | 0.08 |
Chronic low back pain | 3 (15.8%) | 1 (12.5%) | 2 (18.2%) | 0.38 | 2 (50%) | 1 (6.7%) | 0.04 |
Hip/knee osteoarthritis | 3 (15.8%) | 2 (25%) | 1 (9.1%) | 0.38 | 0 | 3 (20%) | 0.36 |
Trigger finger | 1 (5.3%) | 1 (12.5%) | 0 | – | 0 | 1 (6.7%) | – |
Cramps | 1 (5.3%) | 1 (12.5%) | 0 | – | 0 | 1 (6.7%) | – |