Table 1.
Clinical Characteristics of Study Population
| Controls (n=20) | FD Cohort (n=60) | FD Subgroups | |||
|---|---|---|---|---|---|
| 1 (n=20) | 2 (n=20) | 3 (n=20) | |||
| Categorical variables, n (%) | |||||
| Sex (female)a | 14 (70.0) | 37 (61.7) | 14 (70.0) | 18 (90.0) | 5 (25.0) |
| HBP (yes) | 0 (0.0) | 25 (41.7) | 8 (40.0) | 10 (50.0) | 7 (35.0) |
| HF class (0/I/II) | ··· | 39/6/14 | 15/3/2 | 14/2/4 | 10/2/8 |
| ERT (yes) | ··· | 39 (65.0) | 14 (70.0) | 8 (40.0) | 17 (85.0) |
| ACEI/ARB (yes) | 0 (0.0) | 29 (48.3) | 9 (45.0) | 10 (50.0) | 10 (50.0) |
| β‐Blockers (yes) | 0 (0.0) | 11 (18.3) | 3 (15.0) | 3 (15.0) | 5 (25.0) |
| Continuous variable, median (IQR) | |||||
| Age, yb | 41.0 (23.0) | 44.0 (23.0) | 40.5 (21.0) | 48.5 (18.0) | 59.5 (13.0) |
| Age at diagnosis, yc | ··· | 41.5 (22.0) | 34.5 (24.0) | 44.0 (15.0) | 50.5 (35.0) |
| Age at ERT initiation, yd | ··· | 49.0 (17.1) | 38.1 (25.4) | 52.4 (17.0) | 49.4 (19.9) |
| Time in ERT, y | ··· | 6.3 (8.4) | 4.8 (8.0) | 5.9 (7.6) | 8.2 (9.1) |
| MSSIe | ··· | 18.5 (21.0) | 11.0 (11.0) | 12.5 (18.0) | 31.0 (16.0) |
| FIPIe | ··· | 2.0 (3.0) | 1.0 (2.0) | 1.0 (3.0) | 4.0 (2.0) |
| Plasma lyso‐Gb3, nmol/Lf | ··· | 9.1 (16.6) | 3.6 (27.3) | 8.3 (9.9) | 18.8 (45.1) |
| Plasma α‐gal A (female), nmol/h/mL | ··· | 4.3 (4.1) | 5.1 (2.8) | 3.5 (4.5) | 3.8 (.) |
| Plasma α‐gal A (male), nmol/h/mL | ··· | 0.11 (0.3) | 0.14 (0.50) | 0.06 (.) | 0.20 (0.30) |
| NT‐proBNP, ng/mLb | ··· | 142.0 (334.0) | 40.0 (122.0) | 129.5 (166.0) | 940.7 (1602) |
| eGFR, mL/min/1.73 m2 b | 108.5 (20.0) | 93.0 (51.0) | 99.5 (53.0) | 101.0 (91.0) | 67.5 (51.0) |
ACEI indicates angiotensin‐converting enzyme inhibitors; α‐gal A, α‐galactosidase A; ARB, angiotensin II receptor blockers; eGFR, estimated glomerular filtration rate; ERT, enzyme replacement therapy; FD, Fabry disease; FIPI, Fabry International Prognostic Index; HBP, high blood pressure (arterial hypertension); HF, heart failure; IQR, interquartile range; lyso‐Gb3, globotriaosylsphingosine; MSSI, Mainz Severity Score Index; NT‐proBNP, N‐terminal probrain natriuretic peptide.
P<0.01 for difference in the distribution of categorical variables between subgroups.
P<0.01 for difference between subgroups 1 and 3.
P<0.05 for difference between subgroups 1 and 2.
P<0.05 for difference between subgroups 1 and 3.
P<0.01 for difference between group 3 and all other groups.
P<0.05 for difference between subgroups 2 and 3.