31 Cardiac outcomes in Fabry disease Table 1: Patient characteristics (continued) All Men Women Classical Non-classical Classical Non-classical 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%) CVA=cerebrovascular accident; ERT=enzyme replacement therapy, MR= magnetic resonance * Definition of cardiac hypertrophy on echocardiography: (Males >51 g/m2.7 and females >48 g/m2.7), calculated with the Devereux formula: 0.8{1.04[([LVEDD + IVSd +PWd]3 - LVEDD3)]} + 0.6. LVEDD: LV end diastolic dimension (mm), IVSd: Interventricular septal thickness at end- diastole (mm), PWd: Posterior wall thickness at end- diastole (mm). ** The included cardiac MRI’s were obtained at the time of the last follow-up (with a maximum range of 2 year between the MRI and the last follow-up date). Severely affected FD patients with a non-MRI compatible cardiac device were not included in the routine imaging follow-up. † 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 mmHg and/ or diastolic blood pressure of >90 mmHg, measured at least twice - Dyslipidemia: elevated levels of total cholesterol (>6.5 mmol/l) or low density lipoprotein (LDL) cholesterol (>2.5 mmol/l) or triglycerides (>3.0 mmol/l) , or low levels of high-density lipoprotein (HDL) cholesterol (men: <1.0 mmol/l, women <1.2 mmol/l), or medication prescribed for the indication dyslipidemia - Diabetes mellitus: type I or type II if reported by a medical doctor in the medical chart or when the patient is using anti-diabetic medication. 2
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