Table I.
Clinical baseline characteristics of male and female patients with Fabry disease.
| Parameter | Male (n=21) | Female (n=17) | P-value |
|---|---|---|---|
| Enzyme activity (nmol/ml/h/mg) | 0.3 (0.0–23.2) | 64.4 (14.8–152.4) | <0.001 |
| Lyso-Gb3 (ng/ml) | 14.5 (0.9–113.4) | 2.8 (0.7–6.0) | <0.001 |
| BMI (kg/m2) | 23.1±7.1 | 22.0±6.9 | 0.647 |
| Onset age (year) | 13 (1–51) | 33 (5–54) | 0.114 |
| Age at diagnosis (year) | 31.1±14.6 | 39.2±16.8 | 0.122 |
| SBP (mmHg) | 132.2±23.7 | 130.1±13.7 | 0.765 |
| DBP (mmHg) | 81.8±15.7 | 77.6±9.1 | 0.378 |
| PP (mmHg) | 50.4±15.6 | 52.5±11.2 | 0.674 |
| MAP (mmHg) | 98.6±17.3 | 95.1±9.5 | 0.461 |
| Angiokeratoma, % (N) | 20.0 (4/20) | 7.1 (1/14) | 0.298 |
| Abnormal sweating, % (N) | 35.0 (7/20) | 7.1 (1/14) | 0.059 |
| Cornea verticillata, % (N) | 70.0 (14/20) | 50.0 (7/14) | 0.238 |
| Hearing loss, % (N) | 37.5 (6/16) | 16.7 (2/12) | 0.227 |
| Acroparaesthesia, % (N) | 50.0 (10/20) | 50.0 (7/14) | 0.999 |
| Brain MRI, % (N) | 21.1 (4/19) | 38.5 (5/13) | 0.282 |
| LVH, % (N) | 21.1 (4/19) | 0.0 (0/14) | 0.067 |
| ESRD, % (N) | 14.3 (3/21) | 0.0 (0/17) | 0.104 |
| Classical phenotype, % (N) | 47.6 (10/21) | 35.3 (6/17) | 0.521 |
| MSSI score | 19.6±10.0 | 7.6±5.1 | 0.003a |
a
P<0.05. Continuous variables are presented as mean ± standard deviation or median (minimum-maximum). As the MSSI score required comprehensive data of all the examinations, 15 patients (7 males and 8 females) lacking ≥1 examination result were excluded from the MSSI scoring system. Lyso-Gb3, globotriaosylsphingosine; BMI, body mass index; SBP, systolic blood pressure; DBP, diastolic blood pressure; PP, Pulse pressure; MAP, mean arterial pressure; MRI, magnetic resonance imaging; LVH, left ventricular hypertrophy; ESRD, end-stage renal disease; MSSI, mainz severity score index.