Table 2 Clinical data and parameters

age, years

46.3 ± 13.7

48.7 ± 14.3

42.7 ± 12.6

44.1 ± 16.6

47.7 ± 17.3

36.8 ± 12.6

body weight, kg

76.6 ± 20.4

65.8 ± 10.7

92.7 ± 21.4

75.8 ± 19.6

71.6 ± 19.1

83.8 ± 18.3

body height, cm

172.0 ± 10.9

166.1 ± 5.1

181.0 ± 11.3

171.9 ± 9.4

167.0 ± 5.9

181.6 ± 7.2

BMI, kg/m²

25.6 ± 4.8

24.0 ± 4.3

28.0 ± 4.5

25.5 ± 5.8

25.6 ± 6.3

25.3 ± 4.8

GLA activity (normal range 100–250 %) , % of reference

65 [25–181]

100 [54–181]

48 [25–72]

80 [0–272]

166 [34–272]*

13 [0–69]**

lyso-Gb3 within reference range (<0.9 ng/ml), n

19 (82.6)

12 (85.7)

7 (77.8)

9 (22.5)

8 (30.8)**

1 (7.1)***

lyso-Gb3, ng/ml

0.7 ± 0.3

0.6 ± 0.3

0.8 ± 0.3

13.0 ± 16.0

4.5 ± 4.8**

30.2 ± 16.9^****

ERT, n^a

10 (40.0)

4 (26.7)

6 (60.0)

25 (43.1)

12 (30.8)

13 (68.4)

Fabry crisis, n

2 (8.0)

2 (13.3)

0 (0.0)

8 (15.1)

5 (14.7)

3 (15.8)

stroke/TIA, n

7 (28.0)

3 (20.0)

4 (40.0)

5 (8.6)

2 (5.1)

3 (15.8)

IVSd, mm

9.0 ± 1.8

8.3 ± 1.8

9.8 ± 1.4

11.6 ± 5.0

10.6 ± 3.2**

14.0 ± 7.3*

LVH (IVSd > 12 mm), n

3 (12.0)

1 (6.7)

2 (20.0)

19 (40.4)

11 (33.3)

8 (57.1)

pacemaker, n

0 (0.0)

0 (0.0)

0 (0.0)

1 (1.7)

1 (2.6)

0 (0.0)

NYHA class, n

 0

8 (33.3)

3 (21.4)

5 (50.0)

9 (15.5)

7 (18.0)

2 (10.5)*

 I

15 (62.5)

10 (71.4)

5 (50.0)

36 (62.1)

23 (59.0)

13 (68.4)

 II

1 (4.2)

1 (7.1)

0 (0.0)

10 (17.2)

8 (20.5)

2 (10.5)

 III

0 (0.0)

0 (0.0)

0 (0.0)

3 (5.2)

1 (2.6)

2 (10.5)

 IV

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

ACR, mg albumin/ g creatinine

7 [0–14323]

12 [0–14323]

1 [0–12]

82 [0–4080]

59 [0–4080]***

195 [0–2668]****

albuminuria (>30 mg/g), n

4 (16.7)

4 (28.6)

0 (0.0)

37 (82.2)

22 (75.9)**

15 (93.8)****

creatinine, mg/dl

0.86 ± 0.31

0.80 ± 0.35

0.96 ± 0.20

0.86 ± 0.38

0.73 ± 0.18

1.12 ± 0.53

eGFR, ml/min/1.73 m²

95.6 ± 17.6

95.0 ± 16.5

96.4 ± 20.1

97.3 ± 27.5

98.3 ± 21.4

95.2 ± 37.6

dialysis, n

0 (0.0)

0 (0.0)

0 (0.0)

1 (1.7)

0 (0.0)

1 (5.3)

NTX, n

0 (0.0)

0 (0.0)

0 (0.0)

1 (1.7)

0 (0.0)

1 (5.3)

CKD stage, n

G1 (≥90 ml/min/1.73 m²)

18 (72.0)

11 (73.3)

7 (70.0)

37 (67.3)

26 (70.3)

11 (61.1)

G2 (60–89 ml/min/1.73 m²)

6 (24.0)

4 (26.7)

2 (20.0)

12 (21.8)

9 (24.3)

3 (16.7)

G3 (30–59 ml/min/1.73 m²)

1 (4.0)

0 (0.0)

1 (10.0)

6 (10.9)

2 (5.4)

4 (22.2)

G4 (15–29 ml/min/1.73 m²)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

G5 (<15 ml/min/1.73 m²)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

RAAS blockers, n

8 (32.0)

5 (33.3)

3 (30.0)

18 (54.6)

10 (43.5)

8 (80.0)*

diuretics, n

2 (8.0)

0 (0.0)

2 (20.0)

5 (16.1)

5 (23.8)

0 (0.0)

analgesics, n

2 (8.0)

1 (6.7)

1 (10.0)

6 (21.4)

6 (30.0)

0 (0.0)

antidepressants, n

3 (12.0)

2 (13.3)

1 (10.0)

4 (14.8)

4 (21.1)

0 (0.0)

MSSI score (max. 76)

8.5 ± 7.8

8.1 ± 6.7

9.0 ± 9.7

8.9 ± 6.7

8.1 ± 7.5

10.4 ± 4.7

MSSI general (max. 18)

2.4 ± 1.9

2.8 ± 2.3

1.8 ± 1.2

1.8 ± 1.6

1.4 ± 1.6*

2.4 ± 1.3

MSSI cardiac (max. 20)

0.9 ± 2.5

0.6 ± 2.4

1.2 ± 2.6

2.7 ± 4.2

2.9 ± 4.1*

2.3 ± 4.4

MSSI renal (max. 18)

2.1 ± 3.6

2.3 ± 3.8

1.8 ± 3.5

2.4 ± 2.8

1.8 ± 2.8

3.6 ± 2.6*

MSSI neurologic (max. 20)

3.1 ± 4.1

2.4 ± 3.7

4.1 ± 4.6

2.1 ± 2.2

2.1 ± 2.3

2.2 ± 2.2

total DS3 score (max. 80)

6.8 ± 6.5

6.3 ± 6.3

7.6 ± 7.1

9.0 ± 6.2

7.4 ± 6.0

12.1 ± 5.6

total DS3 cardiac (max. 24)

0.6 ± 1.8

0.4 ± 1.3

1.0 ± 2.3

2.8 ± 3.3

2.6 ± 3.2*

3.3 ± 3.5

total DS3 renal (max. 24)

1.3 ± 2.1

1.6 ± 2.3

1.0 ± 1.7

2.4 ± 3.4

1.9 ± 3.0

3.6 ± 3.9*

total DS3 neurologic (max. 16)

4.4 ± 4.7

3.9 ± 4.4

5.2 ± 5.3

3.4 ± 3.5

2.8 ± 3.3

4.8 ± 3.7