Table 4.
Differences in clinical presentation between ERT-naïve females below and above the plasma lyso-Gb3 reference values
| Clinical presentation, laboratory parameters and medication | Females below the reference (n = 16) | Females above the reference (n = 52) |
|---|---|---|
| Age [y] | 49 ± 15 | 41 ± 13* |
| Nonsense mutation [n] | 1 (6.3) | 19 (36.5)* |
| Lyso-Gb3 value [ng/ml] | 0.9 ± 0.5 | 9.4 ± 5.0** |
| FD-related pain [n] | 2 (12.5) | 25 (48.1)* |
| Ever TIA/ stroke [n] | 3 (18.8) | 4 (8.0) |
| SFN [n] | 1 (6.3) | 8 (16.7) |
| Disease severity score | ||
| MSSI Score | 4.3 ± 3.8 | 6.8 ± 5.9 |
| Cardiac measures | ||
| Septal diameter [mm] | 9.1 ± 1.4 | 9.4 ± 2.1 |
| LVH [n] | 2 (12.5) | 7 (14.0) |
| Posterior wall diameter [mm] | 9.2 ± 1.8 | 9.4 ± 1.9 |
| RWT [cm] | 0.41 ± 0.09 | 0.40 ± 0.09 |
| Pacemaker [n] | 0 (0.0) | 0 (0.0) |
| Renal measures | ||
| Albumin/creatinine-ratio [mg/gCreatinine] | 9 [5–51] | 36 [0–734] |
| Albuminuria [n] | 2 (28.6) | 21 (56.8) |
| Creatinine [mg/dl] | 0.76 ± 0.21 | 0.74 ± 0.13 |
| eGFRcreat [ml/min/1.73 m2]a | 96.1 ± 26.2 | 100.7 ± 18.9 |
| Manifestations in different organs justifying ERT (per patient) [n] | 1 [0–3] | 1 [0–3] |
Categorical data are presented as n and are % of total in parenthesis. Otherwise data is presented as mean ± SD or median [range]. eGFR estimated glomerular filtration rate, LVH left ventricular hypertrophy, MSSI Mainz Severity Score Index, RWT relative wall thickness, SFN small fiber neuropathy, TIA Transitory ischemic attack. * p < 0.05, ** p < 0.0001