Table 1.
Clinical characteristics of the two Fabry patients with the D313Y mutation
| Daughter | Father | |
|---|---|---|
| Age (years) | 20 | 53 |
| Alpha-galactosidase activity (nmol/min/mg protein) | 0.35 | 0.32 |
| LysoGb3 (ng/ml) | 0.22 | 0 |
| BMI (kg/m²) | 25.0 | 22.1 |
| Heart rate (/min) | 60 | 62 |
| Blood pressure (mmHg) | 115/65 | 116/82 |
| Cardiac assessment | ||
| LVED wall-thickness (mm) | 7 | 8 |
| Left ventricular mass (g/m²) (Devereux formula) | 42 | 62 |
| EF (%) | 69 | 69 |
| Diastolic function | Normal | Normal |
| Strain rate lateral wall (s–1)* | 1.3 | 1.2 |
| MRI | No LE | No LE |
| Oedema | No | No |
| Renal assessment | ||
| Creatinin plasma (mg/dl) | 0.7 | 0.8 |
| DTPA-clearance (ml/min) | 123 | 124 |
| Proteinuria | No | No |
| Albuminuria | No | No |
| Neurological assessment | ||
| Stroke | No | No |
| Transient ischaemic attack | No | No |
| Pain | Yes, atypical | No |
| Acroparaesthesia | No | No |
| Symptoms | ||
| Abnormal sweating | No | No |
| Heat or cold intolerance | No | No |
| Sudden deafness | No | No |
| Angiokeratomata | 0 | 0 |
| Dyspnoea on exertion | No | No |
BMI body mass index, DTPA diethylene triamine pentaacetic acid, EF ejection fraction, Gb3 globotriaosylceramide, GFR glomerular filtration rate, LE late enhancement, LVED left ventricular end-diastole, MRI magnetic resonance tomography
*Normal absolute values for systolic strain rate in the lateral wall (regional myocardial function) > 1.1