Table 1.
Characteristics of 44 study participants
| No. of women with Fabry disease | 44 |
| No. of families | 28 |
| Index case | 15 |
| Diagnosis by family screening | 29 |
| Ethnicity | |
| Caucasian | 43 (97.7) |
| Asian | 1 (2.3) |
| BMI, kg/m2 | 24 (22, 27) |
| Systolic blood pressure, mmHg | 120 (110, 120) |
| Diastolic blood pressure, mmHg | 80 (70, 80) |
| Hypertension, yes | 9 (20.5) |
| Serum creatinine, mg/dl (n = 30) | 0.8 (0.7, 0.8) |
| Urinary albumin to creatinine ratio, mg/g (n = 29) | 23 (8, 59) |
| Urinary protein to creatinine ratio, mg/g (n = 29) | 106 (60, 177) |
| Chronic kidney disease (including one kidney transplant recipient) | 11 (25.0) |
| Age at first symptoms, years | 11 (6, 20) |
| Age at diagnosis of Fabry disease, years | 34 (21, 47) |
| Age at start of treatment (n = 21), years | 46 (32, 51) |
| Age at study entry, years | 44 (30, 51) |
| Fabry disease specific therapy | 19 (43.2) |
| Current enzyme replacement therapy | 16 (36.4) |
| Current chaperone therapy | 3 (6.8) |
| History of pregnancies | 32 (72.7) |
Data are given as n (%) or median (p25, p75)
BMI body mass index