Patient characteristics
| All | Men | Women | |||
| Classical | Non-classical | Classical | Non-classical | ||
| Patients, n (%) | 149 | 45 (30.2%) | 11 (7.4%) | 73 (49.0%) | 20 (13.4%) |
| Age at first MRI in years, median (range) | 38.8 (9.1–72.3) | 25.1 (11.0–60.5) | 49.5 (24.0–63.9) | 42.0 (11.2–71.3) | 39.2 (9.1–72.3) |
| Patients <18 years, n (%) | 24 (16.1%) | 10 (22.2%) | 0 (0.0%) | 12 (16.4%) | 2 (10.0%) |
| Missense mutation, n (%) | 97 (65.1%) | 22 (48.9%) | 11 (100.0%) | 45 (61.6%) | 19 (95.0%) |
| Ever ERT, n (%) | 88 (59.1%) | 41 (91.1%) | 4 (36.4%) | 42 (57.5%) | 1 (5.0%) |
| Years treated at last MRI, median (range) | 7.9 (0.1–15.8) | 7.9 (0.1–15.8) | 7.5 (2.0–13.0) | 8.1 (1.0–14.1) | 2.2 |
| Antibody positive*, n (%) | NA | 21 (51.2%) | NA | NA | NA |
| LysoGb3 before ERT in nmol/L, median (range) | 9.1 (0.4–148.6) | 99.0 (52.7–148.6) | 7.5 (0.9–26.0) | 7.4 (1.3–39.6) | 2.1 (0.4–6.0) |
| Events before first brain MRI | |||||
| Cerebrovascular event, n (%) | 11 (7.4%) | 5 (11.1%) | 1 (9.1%) | 5 (6.8%) | 0 (0.0%) |
| Stroke, n (%) | 6 (4.0%) | 3 (6.7%) | 0 (0.0%) | 3 (4.1%) | 0 (0.0%) |
| TIA, n (%) | 6 (4.0%) | 2 (4.4%) | 1 (9.1%) | 3 (4.1%) | 0 (0.0%) |
| Ischaemic heart disease, n (%) | 2 (1.3%) | 0 (0.0%) | 1 (9.1%) | 1 (1.4%) | 0 (0.0%) |
| Atrial fibrillation, n (%) | 6 (4.0%) | 3 (6.7%) | 0 (0.0%) | 3 (4.1%) | 0 (0.0%) |
| Systolic dysfunction or LVOTO, n (%) | 5 (3.4%) | 1 (2.2%) | 1 (9.1%) | 1 (1.4%) | 2 (10.0%) |
| Moderate/Severe valve dysfunction, n (%) | 4 (2.7%) | 3 (6.7%) | 0 (0.0%) | 0 (0.0%) | 0 (0.0%) |
| Renal event†, n (%) | 1 (0.7%) | 0 (0.0%) | 0 (0.0%) | 1 (1.4%) | 0 (0.0%) |
| Kidney function at first MRI | |||||
| eGFR in mL/min/1.73 m2, median (range) | 103.9 (11.4–147.3) | 109.5 (19.4–147.3) | 89.7 (11.4–122.7) | 101.0 (46.4–140.1) | 107.1 (53.6–134.4) |
| eGFR <60 mL/min/1.73 m2, n (%) | 15/145 (10.3%) | 6/44 (13.6%) | 4/11 (36.4%) | 4/71 (5.6%) | 1/19 (5.3%) |
| Albuminuria >A1, n (%) | 63/143 (44.1%) | 23/45 (51.1%) | 9/11 (81.8%) | 28/69 (40.6%) | 3/18 (16.7%) |
| Cardiovascular risk factors | |||||
| Hypertension, n (%) | 26 (18.7%) | 5 (11.4%) | 5 (50%) | 12 (16.9%) | 4 (28.6%) |
| Type 2 diabetes, n (%) | 2 (1.4%) | 0 (0.0%) | 1 (11.1%) | 1 (1.4%) | 0 (0.0%) |
| LDL-cholesterol in mmol/L, median (range) | 2.32 (0.95–4.77) | 2.13 (1.36–4.77) | 2.93 (1.14–4.02) | 2.45 (0.95–4.48) | 2.38 (1.35–4.56) |
| Medication | |||||
| Statin, n (%) | 20 (13.4%) | 8 (17.8%) | 3 (27.3%) | 9 (12.3%) | 0 (0.0%) |
| ACE/ARB, n (%) | 73 (49.0%) | 23 (51.1%) | 9 (81.8%) | 39 (53.4%) | 2 (10.0%) |
| Antiplatelet, n (%) | 68 (45.6%) | 25 (55.6%) | 2 (18.2%) | 41 (56.2%) | 0 (0.0%) |
Continuous variables are presented as median (range) and discrete variables as number (percentages).
*A history of antibodies in one man with classical disease (before stopping ERT) was counted as positive, transients antibodies in two men with classical disease were counted as negative.
†One patient with a history of renal transplantation, no patients on dialysis.
ACE, angiotensin-converting enzyme inhibitor; ARB, angiotensin receptor blockers; eGFR, estimated glomerular filtration rate; ERT, enzyme replacement therapy; LDL, low-density lipoproteins; LVOTO, left ventricular outflow tract obstruction; NA, not assessed; TIA, transient ischaemic attack.