Table 1. Demographics.
| Parameters | N215S | non-N215S | ||
|---|---|---|---|---|
| Overall | N = 84 | N = 167 | ||
| Males | Females | Males | Females | |
| N (%) | 37 (44.1) | 47 (55.9) | 58 (34.7) | 109 (65.3) |
| Age (years) at diagnosis | ||||
| Mean (SD) | 51.1 (19.2) | 38.3 (16.1) | 26.1 (16.4) | 34.5 (16.8) |
| Median (range) | 58 (13–74) | 36 (11–78) | 23 (1–65) | 34 (4–75) |
| Age (years) of symptoms onset | ||||
| N (missing) | 241 (0) | 142 (0) | 533 (0) | 594 (4) |
| Mean (SD) | 51.7 (14.5) | 36.8 (21.6) | 13.2 (12.6) | 25.1 (16.4) |
| Median (range) | 57 (7–73) | 28.5 (13–66) | 9 (1–57) | 18 (5–61) |
| Index cases, n (%) | 22 (59.5) | 2 (4.3) | 21 (36.8) | 22 (20.2) |
| First signs & symptoms: | ||||
| Cardiac, n (%) | 18 (81.8) | 1 (50) | 3 (14.3) | 3 (13.6) |
| Renal, n (%) | 2 (9.1) | 1 (50) | 1 (4.8) | 1 (4.6) |
| Dermatological, n (%) | - | - | 2 (9.5) | 3 (13.6) |
| Neurological, n (%) | - | - | 15 (71.4) | 6 (27.3) |
| Stroke, n (%) | - | - | - | 4 (18.2) |
| Ophthalmological, n (%) | - | - | - | 4 (18.2) |
| Gastrointestinal, n (%) | 2 (9.1) | - | - | 1 (4.6) |
|
Leukocyte α-Gal A (normal range = 33–134 nmol/mg protein/hr) | ||||
| N (missing) | 15 (22) | 14 (33) | 31 (26) | 47 (62) |
| Median (range) | 7.0 (2.1–14) | 49 (7–73) | 2.3 (0.1–8.3) | 33 (7.9–88) |
|
Plasma α-Gal A (normal range = 4–21.9 nmol/ml/hr) | ||||
| N (missing) | 36 (1) | 46 (1) | 49 (8) | 102 (7) |
| Median (range) | 0.2 (0–0.6) | 4 (1.9–7.4) | 0.1 (0–1.1) | 3.7 (0.4–12.6) |
| Overall severity (current), | ||||
| N (missing) | 35 (2) | 43 (4) | 49 (8) | 94 (15) |
| Mild (MSSI < 20), n (%) | 13 (37.1) | 41 (95.4) | 8 (16.3) | 65 (69.2) |
| Moderate (MSSI = 20–40), n (%) | 21 (60) | 2 (4.7) | 35 (71.4) | 27 (28.7) |
| Severe (MSSI ≥ 40), n (%) | 1 (2.9) | - | 6 (12.3) | 2 (2.1) |
| Overall severity (baseline), | ||||
| N (missing) | 37 (0) | 46 (1) | 53 (5) | 103 (6) |
| Mild (MSSI < 20), n (%) | 19 (51.4) | 42 (91.3) | 6 (11.3) | 73 (70.9) |
| Moderate (MSSI = 20–40), n (%) | 17 (46) | 4 (8.7) | 45 (84.9) | 29 (28.2) |
| Severe (MSSI ≥ 40), n (%) | 1 (2.7) | - | 2 (3.8) | 1 (1) |
| Age adjusted score | ||||
| N (missing) | 37 (0) | 46 (1) | 55 (2) | 105 (4) |
| Mean (SD) | -5 (5.7) | -2.1 (5.4) | 7.6 (0.9) | 4.8 (7.1) |
| Median (range) | -6 (-13.9–6.5) | -2.5 (-11.7–9.2) | 8.6 (-9.5–21.6) | 3.7 (-7.6–20.9) |
| Currently on ERT, n (%) |
33 (89.2) |
11 (23.4) |
56 (98.2) |
62 (56.9) |
| Agalsidase alfa, n (%) | 30 (90.9) | 10 (90.9) | 50 (87.7) | 58 (93.6) |
| Agalsidase beta, n (%) | 2 (6.1) | 1 (9.1) | 6 (10.5) | 4 (6.5) |
α-Gal A = alpha-galactosidase A; ERT = enzyme replacement therapy; Patients were stratified according to clinical severity, based on the Mainz Severity Score Index (MSSI), into “mild” (MSSI < 20), “moderate” (MSSI 20–40) and severe (MSSI > 40) phenotypes. Number of patients with no symptoms prior to diagnosis: 1. N = 13, 2. N = 33, 3.N = 4, 4. N = 46.