Table 1. Fabry disease and control patient characteristics.
| Fabry disease n (%) or median (range) |
Controls n (%) or median (range) |
|
|---|---|---|
|
| ||
| Males | 13 (100) | 11 (100) |
|
| ||
| Age | 42.7 (16.8-53.7) | 49.4 (20.4 -60.5) |
|
| ||
| AGAL-A activity % | 0.05 (0-2.8) | ND |
|
| ||
| GLA mutations | ||
| Missense, | 5 | |
| Nonsense, Frame | 6 | |
| shift/ splice-site | 2 | |
|
| ||
| Plasma Gb3 | 6.3 (5.3-9.74) n=10 | ND |
|
| ||
| LysoGb3 | 82.3 (152.7-150.3) n=9 | ND |
|
| ||
| Age of diagnosis (year) | 21.5 (12-41) | |
|
| ||
| Classical symptoms | ||
| Acroparesthesia | 12 | |
| Cornea verticillata | 12 (n=12) | |
| Angiokeratoma | 11 | |
|
| ||
| Organ involvement | ||
| eGFR | 95.5 (26-152) | 99.8 (83-126) |
| LVH | 5 (n=12) | ND |
| Stroke/TIA | 3 | 0 |
| Myocardial infarct/CABG | 0 | 0 |
|
| ||
| ACE/ARB use | 3 | 0 |
|
| ||
| Cardiovascular risk factors | ||
| Diabetes mellitus | 0 | 0 |
| Hypertension | 3 (n=12) | 1 |
| Dyslipidemia | 0 | 1 |
| Smoking | 5 (n=12) | 3 |
| Obesity | 0 | 2 |
Abbreviations: ACE: angiotensin I converting enzyme inhibitor, AGAL-A: alpha-galactosidase A activity (relative to mean reference value in healthy controls in leucocytes), ARB: angiotensin II receptor blockers, CABG: coronary artery bypass graft, eGFR: estimated glomerular filtration rate, LVH: left ventricular hypertrophy, ND: not determined, TIA: transient ischemic attack. Age and eGFR were not significantly different between Fabry and control groups based on a non-parametric t test was used.