Table 1 Clinical presentation of female Fabry patients
Clinical presentation, laboratory parameters and medication | Females with ERT with indication | Females w/o ERT with indication | Females with ERT without indication | Females w/o ERT without indication | Total |
|---|---|---|---|---|---|
N | 124 (55.4) | 76 (33.9) | 3 (1.3) | 21 (9.4) | 224 |
Age [y] | 53 ± 14**** | 43 ± 14 | 44 ± 9 | 35 ± 13 | 48 ± 15 |
Weight [kg] | 71.0 ± 17.1 | 69.9 ± 17.5 | 66.2 ± 11.2 | 66.6 ± 19.6 | 70.1 ± 17.4 |
Height [cm] | 164.5 ± 6.7 | 165.8 ± 13.8 | 164.0 ± 4.3 | 166.7 ± 6.2 | 165.1 ± 9.1 |
Heart rate [bpm] | 69 ± 13 | 69 ± 11 | 63 ± 7 | 67 ± 8 | 69 ± 12 |
SBP [mmHg] | 122 ± 17 | 123 ± 14 | 126 ± 5 | 115 ± 16 | 122 ± 16 |
DBP [mmHg] | 74 ± 9 | 77 ± 9 | 76 ± 1 | 73 ± 10 | 75 ± 9 |
Nonsense mutation [n] | 59 (50.0) | 25 (34.7) | 0 (0.0) | 4 (19.1) | 88 (41.1) |
α-galactosidase A activity [% reference] | 118 ± 109 | 118 ± 95 | 127 ± 74 | 135 ± 72 | 119 ± 101 |
α-galactosidase A activity below reference [n] | 42 (56.0) | 24 (53.3) | 1 (33.3) | 3 (42.9) | 70 (53.9) |
Lyso-Gb3 value [ng/ml] | 7.5 ± 6.5 | 7.9 ± 5.8 | 4.5 ± 0.3 | 5.2 ± 4.6 | 7.4 ± 6.1 |
Lyso-Gb3 value above reference [n] | 70 (94.6)** | 43 (78.2) | 2 (100.0) | 9 (69.2) | 124 (86.1) |
Pts on RAAS blockers [n] | 66 (57.4)**** | 16 (23.9) | 0 (0.0) | 3 (18.8) | 85 (42.3) |
Pts on diuretic drugs [n] | 45 (39.1)**** | 5 (7.7) | 0 (0.0) | 1 (5.9) | 51 (52.5) |
Pts on analgesic drugs [n] | 37 (35.2)*** | 7 (10.5) | 0 (0.0) | 0 (0.0) | 44 (22.9) |
ERT since [months] | 68 ± 48 | 0 ± 0 | 43 ± 34 | 0 ± 0 | 38 ± 49 |
Angiokeratoma [n] | 59 (49.6)** | 20 (27.4) | 2 (66.7) | 3 (15.0) | 84 (39.1) |
Edema [n] | 28 (22.6)**** | 1 (1.4) | 0 (0.0) | 0 (0.0) | 29 (13.3) |
Gastrointestinal pain [n] | 32 (26.2) | 26 (36.6) | 0 (0.0) | 0 (0.0) | 58 (27.1) |
Diarrhea [n] | 33 (27.0) | 13 (18.8) | 0 (0.0) | 0 (0.0) | 46 (21.8) |
Hypohidrosis [n] | 49 (40.5) | 22 (29.3) | 2 (66.7) | 1 (5.0) | 74 (33.8) |
Cornea verticillata [n] | 76 (65.5) | 29 (55.8) | 2 (66.7) | 6 (42.9) | 113 (61.1) |
Tinnitus [n] | 42 (34.2)* | 13 (18.1) | 1 (33.3) | 2 (9.5) | 58 (26.5) |
Hypacusis [n] | 27 (22.0)* | 7 (9.9) | 1 (33.3) | 0 (0.0) | 35 (16.1) |
FD-related pain [n] | 82 (66.1)* | 37 (49.3) | 0 (0.0) | 0 (0.0) | 119 (53.6) |
Neuropathic pain [n] | 40 (32.8)*** | 7 (9.7) | 0 (0.0) | 0 (0.0) | 47 (21.7) |
Fatigue [n] | 62 (51.2)**** | 15 (20.0) | 1 (33.3) | 0 (0.0) | 78 (35.6) |
Ever stroke/TIA [n] | 29 (23.4)* | 7 (9.2) | 0 (0.0) | 0 (0.0) | 36 (16.1) |
SFN [n] | 22 (29.3) | 9 (15.0) | 0 (0.0) | 2 (12.5) | 33 (21.7) |
Disease severity score | |||||
MSSI score | 20.7 ± 10.8**** | 7.3 ± 5.2 | 7.3 ± 5.0 | 1.5 ± 1.5 | 14.7 ± 11.4 |