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] |