Table 1.
Demographic and baseline disease characteristics
| Patient characteristics | Overall N = 97 |
Type of variant regarding associated phenotype | Treatment status | ||||
|---|---|---|---|---|---|---|---|
| Classic N = 39 |
Non-classic N = 52 |
P value | Treated N = 33 |
Untreated N = 64 |
P value | ||
| Age at study inclusion, years | 0.683b | 0.127b | |||||
| Median (range) | 50.0 (16–84) | 51.0 (16–81) | 50.5 (19–84) | 52.0 (16–79) | 45.5 (16–84) | ||
| Mean (SD) | 50.1 (17.2) | 49.3 (17.2) | 50.8 (17.6) | 53.8 (14.8) | 48.2 (18.1) | ||
| Identification of the mutation, n (%) | 0.071c | 0.016c | |||||
| Family screening | 68 (70.1) | 24 (61.5) | 41 (78.9) | 18 (54.6) | 50 (78.1) | ||
| Clinical signs/symptoms | 29 (29.9) | 15 (38.5) | 11 (21.2) | 15 (45.5) | 14 (21.9) | ||
| Type of variant regarding associated phenotype, n (%) | < 0.001d | < 0.001d | |||||
| Classic | 39 (40.2) | 39 (100.0) | 0 (0.0) | 23 (69.7) | 16 (25.0) | ||
| Non-classic | 52 (53.6) | 0 (0.0) | 52 (100.0) | 8 (24.2) | 44 (68.8) | ||
| VUS | 6 (6.2) | 0 (0.0) | 0 (0.0) | 2 (6.1) | 4 (6.3) | ||
| Plasma Lyso-Gb3 levels, n (%) | 48 (49.5) | 12 (30.8) | 33 (63.5) | 14 (42.4) | 34 (53.1) | ||
| Median (range), ng/mL | 2.4 (1–11) | 6.5 (3–11) | 1.8 (1–11) | < 0.001e | 6.5 (1–11) | 1.8 (1–5) | < 0.001e |
| Mean (SD), ng/mL | 3.4 (2.6) | 6.4 (2.2) | 2.5 (1.8) | 6.1 (3.0) | 2.3 (1.2) | ||
| Elevated, n (%) | 24 (50.0) | 12 (100.0) | 12 (36.4) | < 0.001c | 13 (92.9) | 11 (32.4) | < 0.001c |
| α -Gal A activity, n (%) | 29 (29.9) | 10 (25.6) | 16 (30.8) | 14 (42.4) | 15 (23.4) | ||
| Decreaseda, n (%) | 15 (51.7) | 6 (60.0) | 9 (56.3) | 1.000d | 9 (64.3) | 6 (42.9) | 0.256c |
|
Any comorbidity, n (%) Most frequent comorbidities, n (%) |
53 (54.6) | 19 (48.7) | 30 (57.7) | 0.395c | 23 (69.7) | 30 (46.9) | 0.032c |
| Arterial hypertension | 25 (25.8) | 11 (28.2) | 13 (25.0) | 14 (42.2) | 11 (17.2) | ||
| Diabetes mellitus | 7 (7.2) | 3 (7.7) | 4 (7.7) | 1 (3.0) | 6 (9.4) | ||
| Obesity | 6 (6.2) | 1 (2.6) | 4 (7.7) | 3 (9.1) | 3 (4.7) | ||
| Fibromyalgia | 3 (3.1) | 2 (5.1) | 1 (1.9) | 2 (6.1) | 1 (1.6) | ||
| Genetic variant, n (%) | < 0.001d | < 0.001d | |||||
| Nonsense | 7 (7.2) | 5 (12.8) | 2 (3.9) | 6 (18.2) | 1 (1.6) | ||
| Missense | 84 (86.6) | 28 (71.8) | 50 (96.2) | 23 (69.7) | 61 (95.3) | ||
| Deletion | 1 (1.0) | 1 (2.6) | 0 (0.0) | 1 (3.0) | 0 (0.0) | ||
| Frameshift | 5 (5.2) | 5 (12.8) | 0 (0.0) | 3 (9.1) | 2 (3.1) | ||
For phenotype analysis females carrying VUS were excluded
α-Gal A, alpha-galactosidase A; Lyso-Gb3, plasma globotriaosylsphingosine; NA, not available; VUS, variant with unknown significance
aIncreased or decreased levels were compared to the reference values of each site per their methodology; bT-test; cX2-square; dFisher's; eMann–Whitney
Statistically significant p values (p <0.05) are highlighted in bold