Table 1 Symptoms and manifestations in p.A143T patients and patients with missense GLA mutations
From: Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
p.A143T Fabry patients | Missense mutation patients | |||||
|---|---|---|---|---|---|---|
Total (n = 25) | Female (n = 15) | Male (n = 10) | Total (n = 58) | Female (n = 39) | Male (n = 19) | |
gastrointestinal pain, n | 12 (48.0) | 8 (53.3)* | 4 (40.0) | 11 (20.0) | 6 (16.2) | 5 (27.8) |
diarrhea, n | 8 (32.0) | 6 (40.0)** | 2 (20.0) | 5 (9.1) | 2 (5.4) | 3 (16.7) |
tinnitus, n | 7 (29.2) | 4 (28.6) | 3 (30.0) | 6 (10.7) | 6 (16.2) | 0 (0.0) |
neuropathic pain, n | 7 (28.0) | 4 (26.7) | 3 (30.0) | 26 (45.6) | 18 (47.4) | 8 (42.1) |
hypohidrosis, n | 6 (24.0) | 4 (26.7) | 2 (20.0) | 18 (32.1) | 11 (29.0) | 7 (38.9) |
fatigue, n | 5 (20.0) | 4 (26.7) | 1 (10.0) | 10 (18.9) | 8 (23.5) | 2 (10.5) |
hypacusis, n | 3 (12.5) | 1 (7.1) | 2 (20.0) | 5 (8.8) | 5 (13.2) | 0 (0.0) |
dyspnea, n | 3 (12.0) | 3 (20.0) | 0 (0.0) | 12 (21.1) | 8 (21.1) | 4 (21.1) |
edema, n | 1 (4.2) | 1 (6.7) | 0 (0.0) | 2 (3.6) | 0 (0.0) | 2 (10.5) |
cornea verticillata, n | 0 (0.0) | 0 (0.0) | 0 (0.0) | 9 (19.6) | 8 (29.6)* | 1 (5.3) |
LVEF, % | 63.1 ± 6.4 | 60.9 ± 6.2 | 66.2 ± 5.6 | 63.2 ± 9.6 | 64.5 ± 9.8 | 60.6 ± 8.8 |