Table I. Main clinical features of Fabry patients.
# | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
Patient | FC* | FbV† | GC | MR‡ | MG¶ | GS | FS** | GS** | IS** | AC* | FaV† | AMC¶ | MTM* | GS** | RS** | MC¶ | AP | AC | SG | RR‡ |
Sex | M | M | M | M | M | M | M | M | M | M | M | F | F | F | F | F | F | F | F | F |
Angiokeratoma | + | + | ++ | – | + | +++ | ++ | + | – | – | + | + | + | + | – | – | – | + | + | – |
Pain | + | ++ | + | + | + | +++ | +++ | + | + | + | + | ++ | + | ++ | + | + | – | + | – | – |
Crisis of fever | – | ++ | – | – | – | +++ | + | – | – | – | – | – | – | – | – | – | – | – | – | – |
Vascular skin lesions | – | + | + | – | – | ++ | ++ | – | – | + | – | + | – | – | – | – | – | – | – | – |
Ocular feature | + | + | + | + | + | ++ | ++ | + | + | + | – | + | ++ | + | – | – | + | + | – | – |
Renal failure | + | + | +++ | ++ | + | + | +++ | + | + | +++ | + | +++ | – | + | + | + | + | + | – | – |
Hypertrophic cardiomyopathy | + | – | + | + | + | + | ++ | – | – | + | – | + | ++ | – | + | – | – | – | + | + |
Lymphoedema | ++ | ++ | – | + | – | +++ | + | + | – | + | ++ | – | – | – | – | – | – | + | – | – |
CNS TIA | – | + | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – | – |
Complaint of hearing loss | – | – | – | Yes | – | Yes | Yes | Yes | – | – | – | – | Yes | Yes | – | – | Yes | – | – | – |
% of enzymatic activity | 3 | 2 | 9 | 9 | 9 | 2 | 1 | 1 | 1 | 5.5 | 2 | 24 | 23.5 | 7.15 | 31.5 | 18 | 35 | 27 | 9 | 28 |
*, †, ‡, ¶, **: relatives; CNS: central nervous system; TIA: transient ischaemic attack; Sign/symptom severity: – none; + mild; ++ moderate; +++ severe.