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Table 3 Female signs and symptoms at diagnosis or at last assessment (females with VUS excluded)

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

Type of signs or symptoms

Total

N = 91

Type of variant regarding

associated phenotype

Treatment status

Classic

N = 39

Non-classic

N = 52

P value

Treated

N = 31

Untreated

N = 60

P value

Anya

76 (83.5)

36 (92.3)

40 (76.9)

0.050d

30 (96.8)

46 (76.7)

0.014d

Peripheral nervous system

32 (35.2)

22 (56.4)

10 (19.2)

< 0.001d

15 (48.3)

17 (28.3)

0.058d

 Neuropathic pain

21 (23.1)

18 (46.2)

3 (5.8)

 

8 (25.8)

13 (21.7)

 

 Acroparesthesia

21 (23.1)

16 (41.0)

5 (9.6)

13 (41.9)

8 (13.3)

 Heat/cold intolerance

6 (6.6)

6 (15.4)

0 (0.0)

5 (16.1)

1 (1.7)

 Sickness

8 (8.8)

6 (15.4)

2 (3.9)

2 (6.5)

6 (10.0)

 Dizziness

4 (4.4)

2 (5.1)

2 (3.9)

0 (0.0)

4 (6.7)

 Tinnitus

3 (3.3)

3 (7.7)

0 (0.0)

1 (3.2)

2 (3.3)

 Hypoacusia

9 (9.9)

8 (20.5)

1 (1.9)

4 (12.9)

5 (8.3)

Ophthalmological

35 (38.5)

25 (64.1)

10 (19.2)

< 0.001d

20 (64.5)

15 (25.0)

< 0.001d

 Cornea verticillata

27 (29.7)

24 (61.5)

3 (5.8)

 

18 (58.1)

9 (15.0)

 

 Retinal vasculopathy

5 (5.5)

4 (10.3)

1 (1.9)

 

3 (9.7)

2 (3.3)

 

 Cataracts

6 (6.6)

0 (0.0)

6 (11.5)

 

1 (3.2)

5 (8.3)

 

 Dry eyes

3 (3.3)

1 (2.6)

2 (3.9)

 

2 (6.5)

1 (1.7)

 

Cardiac

45 (49.5)

24 (61.5)

21 (40.4)

0.046d

23 (74.2)

22 (36.7)

0.001d

 LVH

35 (38.5)

19 (48.7)

16 (30.8)

 

20 (64.5)

15 (25.0)

 

 Dyspnoea

10 (11.0)

7 (18.0)

3 (5.8)

4 (12.9)

6 (10.0)

 Reduced exercise tolerance

9 (9.9)

6 (15.4)

3 (5.8)

2 (6.5)

7 (11.7)

 Syncope

5 (5.5)

5 (12.8)

0 (0.0)

1 (3.2)

4 (6.7)

 Gadolinium retention on MRIb

2 (2.2)

1 (2.6)

1 (1.9)

1 (3.2)

1 (1.7)

 Heart failure

8 (8.8)

6 (15.4)

2 (3.9)

4 (12.9)

4 (6.7)

 Bradycardia

5 (5.5)

4 (10.3)

1 (1.9)

2 (6.5)

3 (5.0)

 Auricular fibrillation

2 (2.2)

1 (2.6)

1 (1.9)

1 (3.2)

1 (1.7)

 Ventricular tachycardia

4 (4.4)

2 (5.1)

2 (3.9)

1 (3.2)

3 (5.0)

 Sudden cardiac death

1 (1.1)

1 (2.6)

0 (0.0)

0 (0.0)

1 (1.7)

Gastrointestinal

13 (14.3)

7 (18.0)

6 (11.5)

0.387d

7 (22.6)

6 (10.0)

0.122e

Dermatological (i.e., angiokeratoma)

11 (12.1)

7 (18.0)

4 (7.7)

0.195d

7 (22.6)

4 (6.7)

0.041e

Renal

18 (19.8)

8 (20.5)

10 (19.2)

0.879d

7 (22.6)

11 (18.3)

0.630d

 Albuminuria

5 (5.5)

3 (7.7)

2 (3.9)

 

1 (3.2)

4 (6.7)

 

 Proteinuria

10 (11.0)

5 (12.8)

5 (9.6)

5 (16.1)

5 (8.3)

 Decreased GFR

7 (7.7)

2 (5.1)

5 (9.6)

2 (6.5)

5 (8.3)

 Dialysis

2 (2.2)

1 (2.6)

1 (1.9)

1 (3.2)

1 (1.7)

 Kidney transplant

1 (1.1)

1 (2.6)

0 (0.0)

1 (3.2)

0 (0.0)

Cerebrovascular

10 (11.0)

8 (20.5)

2 (3.9)

0.017e

7 (22.6)

3 (5.0)

0.028e

 White matter lesion on MRIc

2 (2.2)

2 (5.1)

0 (0.0)

 

2 (6.5)

0 (0.0)

 

 TIA

2 (2.2)

2 (5.1)

0 (0.0)

1 (3.2)

1 (1.7)

 Stroke

3 (3.3)

2 (5.1)

1 (1.9)

 

2 (6.5)

1 (1.7)

  1. Multiple answer, the sum of percentages can be greater than 100%
  2. GFR, glomerular filtration rate; GI, gastrointestinal; LVH, left ventricular hypertrophy; Lyso-Gb3, plasma globotriaosylsphingosine; MRI, magnetic resonance imaging; NA, not available; PNS, peripheral nervous system; TIA, transient ischemic attack
  3. aAny signs included: PNS, GI, opththalmological, cardiac, respiratory, dermatological, vascular, cerebrovascular, lymphatics, renal, neuropsychological, bones and elevated Lyso-Gb3; bPatients with ≥ 1 cardiac MRI performed n = 6; cPatients with ≥ 1 brain MRI performed n = 3; cX2-Square; dFisher's test
  4. Statistically significant p values (p <0.05) are highlighted in bold
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172