Table 1 Comparison of the age at onset, first visit and final diagnosis, the initial manifestations, first visit and final diagnosis medical specialty of patients with classical and late-onset Fabry disease at different sexes

Age at onset (years)

14.69 ± 11.96

12.69 ± 9.10

11.32 ± 7.72

27.67 ± 9.77^a

18.99 ± 15.72 ^b

17.53 ± 15.64

22.95 ± 15.61

Age at first visit (years)

19.63 ± 12.80

17.55 ± 10.60

16.10 ± 9.75

30.93 ± 8.80 ^a

24.98 ± 16.11 ^b

23.17 ± 16.15

32.25 ± 14.36

Age at final diagnosis (years)

29.55 ± 12.32

27.46 ± 9.77

26.90 ± 9.63

33.94 ± 8.31^a

34.71 ± 16.03 ^b

34.58 ± 16.53

35.21 ± 14.42

Initial manifestations [n/N (%)]

 Acroparesthesia (limb pain)

186 /296 (62.84)

138/196 (70.41)

138/171 (80.71)

0/25 ^a

48 /100 (48.00) ^b

47/64 (73.44)

1/36 (2.78) ^c

 Anhidrosis or hypohidrosis

47 /296 (15.88)

32 /196 (16.33)

29/171 (17.00)

3/25 (12.00)

15 /100 (15.00)

11/64 (17.19)

4/36 (11.11)

 Renal involvement

46 /296 (15.54)

33 /196 (16.84)

15/171 (8.77)

18/25 (72.00) ^a

13 /100 (13.00)

2/64 (3.13)

11/36 (30.56) ^c

 Cardiovascular involvement

18 /296 (6.08)

13 /196 (6.63)

13/171 (7.60)

0/25

5 /100 (5.00)

5/64 (7.81)

0/36

 Angiokeratomas

19 /296 (6.42)

6 /196 (3.06)

3/171 (1.75)

3/25 (12.00) ^a

13 /100 (13.00) ^b

3/64 (4.69)

10/36 (27.78) ^c

 Neuropsychiatric involvement

8 /296 (2.70)

1 /196 (0.51)

1/171 (0.58)

0/25

7 /100 (7.00) ^b

1/64 (1.56)

6/36 (16.67) ^c

 Digestive system involvement

6 /296 (2.03)

1 /196 (0.51)

0/171

1/25 (4.00)

5 /100 (5.00) ^b

4/64 (6.25)

1/36 (2.78)

 Others manifestations

3 /296 (1.01)

1/196 (0.51)

0/171

1/25 (4.00)

2 /100 (2.00)

2/64 (3.13)

0/36

The first medical specialty visited [n/N (%)]

 Pediatric

66 /249 (26.51)

51 /172 (29.65)

51/152 (33.55)

0 /20 ^a

15 /77 (19.48)

13/56 (23.21)

2/21 (9.52)

 Neurology

49 /249 (19.68)

34 /172 (19.77)

34/152 (22.37)

0/20 ^a

15 /77 (19.48)

14/56 (25.00)

1/21 (4.76) ^c

 Nephrology

46 /249 (18.47)

35 /172 (20.35)

18/152 (11.84)

17/20 (85.00) ^a

11 /77 (14.29)

4/56 (7.14)

7/21 (33.33) ^c

 Rheumatology and Immunology

23 /249 (9.24)

16 /172 (9.30)

16/152 (10.53)

0 /20

7 /77 (9.09)

7/56 (12.50)

0/21

 Cardiovascular

15 /249 (6.02)

4 /172 (2.33)

3/152 (1.97)

1/20 (5.00)

11 /77 (14.29) ^b

3/56 (5.36)

8/21 (38.10) ^c

 Dermatology

13/ 249 (5.22)

7 /172 (4.07)

7/152 (4.61)

0/20

6 /77 (7.79)

4/56 (7.14)

2/21 (9.52)

 Pain management clinic

9 /249 (3.61)

7 /172 (4.07)

7/152 (4.61)

0/20

2 /77 (2.60)

2/56 (3.57)

0/21

 Orthopaedics

5 /249 (2.01)

5 /172 (2.91)

5/152 (3.29)

0/20

0/77

0/56

0/21

 Gastroenterology

4 /249 (1.61)

2 /172 (1.16)

1/152 (0.66)

1/20 (5.00)

2 /77 (2.60)

2/56 (3.57)

0/21

 Other medical specialties

19 /249 (7.63)

11 /172 (6.40)

11/152 (7.24)

0/20

8 /77 (10.39)

7/56 (12.50)

1/21 (4.76)

The final diagnosis medical specialty [n/N(%)]

 Nephrology

121 /217 (55.76)

93 /154 (60.39)

79/139 (56.83)

14/15 (93.33) ^a

28 /63(44.44)

18/50 (36.00)

10/13 (76.92) ^c

 Neurology

42 /217 (19.35)

28 /154 (18.18)

28/139 (20.14)

0/15

14 /63(22.22)

14/50 (28.00)

0/13 ^c

 Pediatric

20 /217 (9.22)

13 /154 (8.44)

13/139 (9.35)

0/15

7 /63(11.11)

7/50 (14.00)

0/13

 Medical Genetics

13 /217 (5.99)

6 /154 (3. 90)

6/139 (4.32)

0/15

7 /63(11.11) ^b

6/50 (12.00)

1/13 (7.69)

 Cardiology

11 /217 (5.07)

8 /154 (5.19)

7/139 (5.04)

1/15 (6.67)

3 /63(4.76)

1/50 (2.00)

2/13 (15.38) ^c

 Rheumatology and Immunology

4 /217 (1.84)

1 /154 (0.65)

1/139 (0.72)

0/15

3 /63(4.76) ^b

3/50 (6.00)

0/13

 Dermatology

1 /217 (0.46)

1 /154 (0.65)

1/139 (0.72)

0/15

0/63

0/50

0/13

 Other medical specialties

5 /217 (2.30)

4 /154 (2.60)

4/139 (2.88)

0/15

1 /63 (1.59)

0/50

1/13 (7.69) ^c