Skip to main content

Table 3 Clinical presentation of females with and without ERT with ERT indications with nonsense and missense mutations

From: Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

 

Females with ERT

Females without ERT

Clinical presentation, laboratory parameters and medication

Mmissense mutations (n = 65)

Nonsense mutations (n = 59)

Missense mutations (n = 51)

Nonsense mutations (n = 25)

Age [y]

53 ± 14

53 ± 15

45 ± 15

40 ± 13

ERT duration [months]

57 ± 47

81 ± 46**

-

-

α-galactosidase A activity below reference [n]

24 (60.0)

18 (51.4)

11 (39.3)

13 (76.5)*

Lyso-Gb3 value [ng/ml]

6.3 ± 4.1

8.6 ± 8.0

6.9 ± 6.0

9.9 ± 5.0

Lyso-Gb3 value above reference [n]

30 (88.2)

40 (100.0)*

26 (70.3)

17 (94.4)

Angiokeratoma [n]

25 (39.7)

34 (60.7)*

10 (20.4)

10 (41.7)

Edema [n]

10 (15.4)

18 (30.5)

0 (0.0)

1 (4.2)

Gastrointestinal pain [n]

22 (33.9)

10 (17.5)

19 (40.4)

7 (29.2)

Hypohidrosis [n]

22 (34.4)

27 (47.4)

15 (29.4)

7 (29.7)

Cornea verticillata [n]

37 (63.8)

39 (67.2)

16 (50.0)

13 (65.0)

Tinnitus [n]

23 (35.9)

19 (32.2)

9 (18.8)

4 (16.7)

Hypacusis [n]

19 (24.6)

11 (19.0)

4 (8.3)

3 (13.0)

FD-related pain [n]

41 (63.1)

41 (69.5)

21 (41.2)

16 (66.7)*

Fatigue [n]

32 (50.8)

30 (51.7)

11 (21.6)

4 (16.7)

Ever TIA [n]

4 (6.4)

9 (15.8)

2 (4.1)

2 (8.3)

Ever stroke [n]

11 (19.0)

10 (19.6)

3 (5.9)

0 (0.0)

SFN [n]

10 (29.4)

12 (29.3)

3 (7.9)

6 (27.3)

Disease severity score

 MSSI score

21.8 ± 12.0

19.6 ± 9.4

7.5 ± 5.3

6.9 ± 5.1

Cardiac measures

 Septal diameter [mm]

11.8 ± 2.7

12.8 ± 4.4

9.6 ± 2.2

9.6 ± 1.7

 LVH [n]

33 (55.0)

31 (56.4)

10 (20.0)

4 (16.7)

 Posterior wall diameter [mm]

11.2 ± 2.8

11.5 ± 3.4

9.5 ± 1.9

9.1 ± 1.7

 RWT [cm]

0.52 ± 0.14

0.54 ± 0.21

0.42 ± 0.10

0.39 ± 0.07

 Pacemaker [n]

10 (15.4)

8 (13.6)

0 (0.0)

0 (0.0)

 Myocardial infarction [n]

3 (5.7)

4 (8.3)

0 (0.0)

0 (0.0)

Renal measures

 Albumin/creatinine-ratio [mg/gCreatinine]

66 [0–1148]

39 [0–4773]

37 [0–734]

36 [6–535]

 Albuminuria [n]

34 (64.2)

26 (59.1)

19 (55.9)

11 (64.7)

 Creatinine [mg/dl]

1.07 ± 1.24

0.89 ± 0.34

0.76 ± 0.16

0.74 ± 0.12

 eGFRcreat [ml/min/1.73 m2]a

81.3 ± 25.4

81.0 ± 25.3

96.7 ± 19.8

101.0 ± 18.4

Manifestations in different organs justifying ERT (per patient) [n]

2 [1–5]

3 [1–4]

1 [1–3]

1 [1–3]

  1. Nonsense mutations include single nucleotide exchanges, resulting in a stop codon (termination), deletion or insertions of nucleotides resulting in a frame shift or large deletions within the protein, or splice site mutations, resulting in altered splice products of mRNA. Categorical data are presented as n and are % of total in parenthesis. Otherwise data are presented as mean ± SD or median [range]. eGFR estimated glomerular filtration rate (aexcluding patients with dialysis and/or kidney transplant), LVH Left ventricular hypertrophy, MSSI Mainz Severity Score Index, SFN small fiber neuropathy, RWT relative wall thickness, TIA transitory ischemic attack. eGFRcreat is calculated via the CKD-EPI formula according to Levey et al. 2009. missense vs. nonsense mutations: * p < 0.05, ** p < 0.01
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172