Baseline characteristics
| Classical | Non-classical | Uncertain | No FD | |||||
|---|---|---|---|---|---|---|---|---|
| M | F | M | F | M | F | M | F | |
| n | 38 | 66 | 13 | 14 | 5 | 9 | 6 | 3 |
| Age Median (range) | 38 (17–58) | 43 (16–72) | 59 (34–70) | 41 (27–74) | 44 (41–70) | 31 (17–65) | 33 (20–69) | 50 (45–52) |
| Treated with ERT % (n) | 82 (31) | 56 (37) | 62 (8) | 14 (2) | 0 | 11 (1) | 0 | 0 |
| αGalA % of normal Median (range) | 0.3 (0–3.5) | 36.6 (3.9–119.0) | 3.3 (1.8–6.7) | 55.6 (12.7–80.0) | 7.3 (5.6–29.8) | 50.7 (31.3–170.0) | 44 (21.8–108.0) | 142 (57.8–156.0) |
| Angiokeratoma % (n) | 81 (30/37) | 18 (11/61) | 0 | 0 (0/13) | 0 | 0 | 0 | 0 |
| Cornea verticillata % (n) | 93 (28/30) | 81 (48/59) | 27 (3/11) | 8 (1/12) | 0 | 0 (0/6) | 0 (0/5) | 0 (0/2) |
| Neuropathic pain % (n) | 90 (34/38) | 39 (26/66) | 0 | 0 | 0 | 0 | 0 | 0 |
| ≥1 characteristic Sign/symptom % (n) | 100 (38/38) | 85 (53/62) | ||||||
| Anhidrosis % (n) | 57 (20/35) | 21 (12/58) | 0 (0/12) | 0 | 0 | 11 (1/9) | 0 (0/5) | 0 |
| ≥1 Clinical event % (n) | 34 (13) | 15 (10) | 62 (8) | 0 | 40 (2) | 33 (3) | 33 (2) | 33 (1) |
| Stroke % (n) | 11 (4) | 8 (5) | 8 (1) | 0 | 0 | 0 | 0 | 33 (1) |
| TIA % (n) | 5 (2) | 3 (2) | 8 (1) | 0 | 0 | 0 | 0 | 0 |
| ≥1 cardiac event % (n) | 16 (6) | 8 (5) | 54 (7) | 0 | 40 (2) | 22 (2) | 33 (2) | 0 |
| Symptomatic cardiac arrhythmias % (n) | 13 (5) | 8 (5) | 23 (3) | 0 | 20 (1) | 11 (1) | 33 (2) | 0 |
| PM/ICD % (n) | 3 (1) | 3 (2) | 39 (5) | 0 | 20 (1) | 11 (1) | 17 (1) | 0 |
| Myocardial infarction % (n) | 3 (1) | 2 (1) | 8 (1) | 0 | 0 | 11 (1) | 0 | 0 |
| PTCA/CABG % (n) | 3 (1) | 2 (1) | 0 | 0 | 0 | 11 (1) | 17 (1) | 0 |
| Heart failure hospitalisation % (n) | 3 (1) | 3 (2) | 0 | 0 | 0 | 0 | 0 | 0 |
| LVH % (n) | 43 (13/30) | 27 (17/62) | 55 (6/11) | 20 (2/10) | 20 (1/5) | 22 (2/9) | 67 (4/6) | 33 (1/3) |
| Dialysis/ kidney transplant % (n) | 8 (3) | 3 (2) | 15 (2) | 0 | 0 | 11 (1) | 0 | 0 |
| eGFR Median (range) | 106 (23–151) | 96 (5–151) | 80 (18–106) | 96 (28–120) | 103 (92–114) | 116 (25–135) | 107 (72–132) | 95 (92–95) |
| LysoGb3* Median (range) | 100 (45–150) | 7.5 (1.5–41.5) | 7.4 (1.3–35.7) | 0.9 (0.5–2.0) | 0.8 (0.5–1.6) | 0.5 (0.2–0.8) | 0.4 (0.3–0.6) | 0.3 (0.3–0.3) |
| Gb3† Median (range) | 4.3 (1.9–7.2) | 1.3 (0.5–4.1) | 1.4 (1.1–1.7) | 1.1 (0.7–1.7) | 0.7 (0.7–1.1) | 1.1 (0.5–2.0) | 0.9 (0.4–1.4) | 0.9 (0.7–1.3) |
Clinical events were defined as: a stroke, transient ischaemic attack (TIA), cardiac event, dialysis or kidney transplant. A cardiac event was defined as: symptomatic cardiac arrhythmias, pacemaker (PM), implantable cardiac defibrillator (ICD), myocardial infarction, percutaneous-transluminal coronary angioplasty (PTCA) or coronary artery bypass graft (CABG), or admission to hospital due to heart failure.
*Normal values lysoGb3 ≤0.6 nmol/L.
†Normal values for plasma Gb3<2.46 nmol/mL.
αGalA, α-galactosidase A activity; eGFR, estimated glomerular filtration rate; ERT, enzyme replacement therapy; F, female; FD, Fabry disease; Gb3, plasma globotriaosylceramide; LVH, left ventricular hypertrophy; lysoGb3, plasma globotriaosylsphingosine; M, male.