Table 1 Demographics and clinical characteristics of the study sample
Demographics | Total | Men | Women | p |
|---|---|---|---|---|
n = 43 | n = 20 (47%) | n = 23 (53%) | ||
Age in 2020 (range 21–78) (n = 36) | 49.8 (15.1) | 50.2 (13.1) | 48.2 (16.8) | .701 |
Age at first clinical visit (range 18–81) | 47.0 (15.3) | 44.4 (8.8) | 49.2 (19.2) | .313 |
Medical variables last clinical visit | ||||
α-GAL-A enzyme activity < 2% | 12 (28%) | 12 (60%) | 0 (0%) | |
Cornea verticillata (n = 41) | 23 (56%) | 8 (44%) | 15 (65%) | .183 |
Left ventricular hypertrophy (n = 41) | 24 (59%) | 12 (63%) | 12 (55%) | .577 |
Cardiac ejection fraction (EF ≤ 50%) | 10 (23%) | 6 (30%) | 4 (17%) | .329 |
Pre-cerebral vessel arteriosclerosis (n = 40) | 17 (43%) | 10 (56%) | 7 (32%) | .131 |
Pacemaker/ICD implant | 8 (19%) | 5 (25%) | 3 (13%) | .315 |
Clinical history of cerebrovascular eventa | 15 (35%) | 8 (40%) | 7 (30%) | .512 |
Small fibre neuropathy | 21 (49%) | 15 (75%) | 6 (26%) | .001 |
Measured GFR (ml/min) | 69.0 (26.5) | 62.8 (30.1) | 74.4 (22.6) | .154 |
Renal Replacement Therapy (tx/dialysis) | 5 (12%) | 5 (26%) | 0 (0%) | .012 |
Reduced hearing/tinnitus | 21 (50%) | 11 (55%) | 10 (46%) | .537 |
Lyso-GB3 (ng/ml) (n = 36) | 5.0 (8.2) | 7.3 (27.3) | 4.9 (6.3) | .188 |
Currently on ERT/chaperone (n = 36) | 26 (72%) | 16 (100%) | 10 (50%) | .001 |
Medical conditions up to last clinical visit | ||||
Gastrointestinal disease (acute or chronic) | 14 (33%) | 4 (20%) | 10 (44%) | .101 |
Diabetes mellitus | 2 (5%) | 1 (5%) | 1 (4%) | .919 |
History of cancer | 9 (21%) | 3 (15%) | 6 (26%) | .373 |
Chronic obstructive pulmonary disease | 12 (28%) | 7 (35%) | 5 (22%) | .334 |
Coronary artery stenoses (by angiography) | 4 (10%) | 3 (15%) | 1 (5%) | .249 |