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Table 1 Demographic and baseline disease characteristics

From: The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants

Patient characteristics

Overall

N = 97

Type of variant regarding associated phenotype

Treatment status

Classic

N = 39

Non-classic

N = 52

P value

Treated

N = 33

Untreated

N = 64

P value

Age at study inclusion, years

   

0.683b

  

0.127b

 Median (range)

50.0 (16–84)

51.0 (16–81)

50.5 (19–84)

 

52.0 (16–79)

45.5 (16–84)

 

 Mean (SD)

50.1 (17.2)

49.3 (17.2)

50.8 (17.6)

 

53.8 (14.8)

48.2 (18.1)

 

Identification of the mutation, n (%)

   

0.071c

  

0.016c

 Family screening

68 (70.1)

24 (61.5)

41 (78.9)

 

18 (54.6)

50 (78.1)

 

 Clinical signs/symptoms

29 (29.9)

15 (38.5)

11 (21.2)

 

15 (45.5)

14 (21.9)

 

Type of variant regarding associated phenotype, n (%)

   

< 0.001d

  

< 0.001d

 Classic

39 (40.2)

39 (100.0)

0 (0.0)

 

23 (69.7)

16 (25.0)

 

 Non-classic

52 (53.6)

0 (0.0)

52 (100.0)

 

8 (24.2)

44 (68.8)

 

 VUS

6 (6.2)

0 (0.0)

0 (0.0)

 

2 (6.1)

4 (6.3)

 

Plasma Lyso-Gb3 levels, n (%)

48 (49.5)

12 (30.8)

33 (63.5)

 

14 (42.4)

34 (53.1)

 

 Median (range), ng/mL

2.4 (1–11)

6.5 (3–11)

1.8 (1–11)

< 0.001e

6.5 (1–11)

1.8 (1–5)

< 0.001e

 Mean (SD), ng/mL

3.4 (2.6)

6.4 (2.2)

2.5 (1.8)

 

6.1 (3.0)

2.3 (1.2)

 

 Elevated, n (%)

24 (50.0)

12 (100.0)

12 (36.4)

< 0.001c

13 (92.9)

11 (32.4)

< 0.001c

α -Gal A activity, n (%)

29 (29.9)

10 (25.6)

16 (30.8)

 

14 (42.4)

15 (23.4)

 

 Decreaseda, n (%)

15 (51.7)

6 (60.0)

9 (56.3)

1.000d

9 (64.3)

6 (42.9)

0.256c

Any comorbidity, n (%)

Most frequent comorbidities, n (%)

53 (54.6)

19 (48.7)

30 (57.7)

0.395c

23 (69.7)

30 (46.9)

0.032c

 Arterial hypertension

25 (25.8)

11 (28.2)

13 (25.0)

 

14 (42.2)

11 (17.2)

 

 Diabetes mellitus

7 (7.2)

3 (7.7)

4 (7.7)

 

1 (3.0)

6 (9.4)

 

 Obesity

6 (6.2)

1 (2.6)

4 (7.7)

 

3 (9.1)

3 (4.7)

 

Fibromyalgia

3 (3.1)

2 (5.1)

1 (1.9)

 

2 (6.1)

1 (1.6)

 

Genetic variant, n (%)

   

< 0.001d

  

< 0.001d

 Nonsense

7 (7.2)

5 (12.8)

2 (3.9)

 

6 (18.2)

1 (1.6)

 

 Missense

84 (86.6)

28 (71.8)

50 (96.2)

 

23 (69.7)

61 (95.3)

 

 Deletion

1 (1.0)

1 (2.6)

0 (0.0)

 

1 (3.0)

0 (0.0)

 

 Frameshift

5 (5.2)

5 (12.8)

0 (0.0)

 

3 (9.1)

2 (3.1)

 
  1. For phenotype analysis females carrying VUS were excluded
  2. α-Gal A, alpha-galactosidase A; Lyso-Gb3, plasma globotriaosylsphingosine; NA, not available; VUS, variant with unknown significance
  3. aIncreased or decreased levels were compared to the reference values of each site per their methodology; bT-test; cX2-square; dFisher's; eMann–Whitney
  4. Statistically significant p values (p <0.05) are highlighted in bold