Patient characteristics
| All | Men | Women | |||
| Classical | Non-classical | Classical | Non-classical | ||
| General | |||||
| Number of patients, n (%) | 213 (100) | 57 (27) | 26 (12) | 98 (46) | 32 (15) |
| Age at last outpatient visit or death (years), median (range) | 50 (19–83) | 45 (19–66) | 64 (26–78) | 51 (19–83) | 47 (23–79) |
| Cumulative follow-up from the age of 15 (years) | 7090 | 1546 | 1190 | 3213 | 1140 |
| Age at first outpatient clinic visit (years) median (range) | 42 (3–77) | 30 (3–58) | 60 (22–70) | 41 (7–71) | 44 (19–77) |
| Comorbidities | |||||
| Number of patients with CVA at any time, n (%) | 25 (12) | 9 (16) | 5 (19) | 11 (11) | 0 (0) |
| Obesity,* n (%) | 30/198 (15) | 1/51 (2) | 4/24 (17) | 16/93 (17%) | 9/30 (30) |
| Smoking,* n (%) | 75/177 (42) | 17/44 (39) | 14/23 (61) | 35/87 (40) | 9/23 (39) |
| Hypertension,* n (%) | 48/199 (24) | 8/51 (16) | 11/26 (42) | 18/95 (19) | 11/27 (41) |
| Dyslipidaemia,* n (%) | 14/187 (8) | 0/43 (0) | 7/23 (30) | 5/91 (6) | 2/30 (7) |
| Diabetes mellitus,* n (%) | 4/203 (2) | 0/52 (0) | 2/25 (8) | 1/96 (1) | 1/30 (3) |
| Cardiac imaging | |||||
| Echocardiography | |||||
| Available echocardiography at any time, n (%) | 181 (85) | 49 (86) | 21 (81) | 87 (89) | 24 (75) |
| Left ventricular hypertrophy on echocardiography at any time, n (%)† | 90/181 (50) | 24/49 (49) | 16/21 (76) | 43/87 (49) | 7/24 (29) |
| Cardiac MR‡ | |||||
| Available cardiac MR at last follow-up, n (%) | 141 (66) | 41 (72) | 11 (42) | 71 (73) | 18 (56) |
| Left ventricular ejection fraction (%), median (range) | 61 (24–84) | 57 (24–70) | 57 (48–67) | 63 (51–84) | 61 (57–70) |
| Available cardiac MR, where myocardial fibrosis was assessed by late gadolinium enhancement, n (%) | 139/141 (99) | 39/41 (95) | 11/11 (100) | 71/71 (100) | 18/18 (100) |
| Myocardial fibrosis on cardiac MR, n (%) | 54/139 (39) | 13/39 (33) | 6/11 (55) | 29/71 (41) | 6/18 (33) |
| ERT | |||||
| Patients on ERT, n (%) | 128 (60) | 47 (83) | 12 (46) | 62 (63) | 7 (22) |
| Age start ERT (years), median (range) | 42 (10–77) | 27 (10–58) | 59 (20–68) | 46 (16–71) | 60 (30–77) |
| Untreated patients, n (%) | 85 (40) | 10 (17) | 14 (54) | 36 (37) | 25 (78) |
| Reasons for not starting ERT | |||||
| Diagnosis through family screening, absent or minimal organ involvement, n (%) | 41 (19) | 1 (2) | 3 (12) | 17 (17) | 20 (63) |
| Diagnosis not through family screening, absent or minimal organ involvement, n (%) | 2 (1) | 0 (0) | 0 (0) | 1 (1) | 1 (3) |
| Advanced disease stage, n (%) | 18 (9) | 2 (4) | 9 (35) | 5 (5) | 2 (6) |
| Follow-up ended before ERT was available, n (%) | 8 (4) | 5 (9) | 0 (0) | 3 (3) | 0 (0) |
| Other, n (%) | 16 (8) | 2 (4) | 2 (8) | 10 (10) | 2 (6) |
*Cardiovascular risk factors assessed at first outpatient clinic visit: obesity: Body Mass Index≥ 30 kg/m2; smoking: patients who have ever smoked; hypertension: antihypertensive medication use or systolic blood pressure of >140 mm Hg and/or diastolic blood pressure of >90 mm Hg, measured at least twice; dyslipidaemia: elevated levels of total cholesterol (>6.5 mmol/L) or low-density lipoprotein cholesterol (>2.5 mmol/L) or triglycerides (>3.0 mmol/L), or low levels of high-density lipoprotein cholesterol (men: <1.0 mmol/L, women: <1.2 mmol/L) or medication prescribed for the indication dyslipidaemia; diabetes mellitus: type 1 or type 2, if reported by a medical doctor in the medical chart or when the patient is using antidiabetic medication.
†The included cardiac MRIs were obtained at the time of the last follow-up (with a maximum range of 2 years between the MRI and the last follow-up date). Severely affected patients with Fabry disease with a non-MRI compatible cardiac device were not included in the routine imaging follow-up.
‡Definition of cardiac hypertrophy on echocardiography: men>51 g/m2.7 and women>48 g/m2.7), calculated with the Devereux formula: 0.8{1.04[([LVEDD+IVSd+PWd]3−LVEDD3)]}+0.6. LVEDD, IVSd and PWd are in millimetre.
CVA, cerebrovascular accident; ERT, enzyme replacement therapy; IVSd, interventricular septal thickness at end diastole; LVEDD, left ventricular end diastolic dimension; MR, magnetic resonance; PWd, posterior wall thickness at end diastole.