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. 2024 Apr 18;19:165. doi: 10.1186/s13023-024-03180-3

Table 4.

Any symptoms ever likely related to Fabry disease of 44 women

All women (n = 44) With pregnancy (n = 32) Without pregnancy (n = 12)
Women with symptoms 38 (86.4) 28 (87.5) 10 (83.4)
Women without symptomsa 6 (13.7) 4 (12.5) 2 (16.7)
Age at study entry 44 (30, 51) 48 (39, 54) 24 (21, 32)
Hypohidrosis, cold or heat intolerance 21 (47.7) 15 (46.9) 6 (50.0)
Acroparesthesia 25 (56.8) 17 (53.1) 8 (66.7)
Pain 23 (52.3) 17 (53.1) 6 (50.0)
Angiokeratomas 8 (18.2) 6 (18.8) 2 (16.7)
Neurologic symptoms 10 (22.7) 9 (28.1) 1 (8.3)
Cerebrovascular event 3 (6.8) 2 (6.3) 1 (8.3)
Cardiac symptoms 15 (34.1) 14 (43.8) 1 (8.3)
Angina 8 (18.2) 8 (25.0) 0
Kidney disease 11 (25.0) 11 (34.4) 0
Proteinuria 15 (34.1) 12 (37.5) 3 (25.0)
Hypertension 12 (27.3) 12 (37.5) 0
Gastrointestinal symptoms 22 (50.0) 16 (50.0) 6 (50.0)
Asthma/COPD 11 (25.0) 11 (34.4) 0
Anxiety disorder 7 (15.9) 6 (18.8) 1 (8.3)
Depression 16 (36.4) 14 (43.8) 2 (16.7)
Hypacusis 9 (20.5) 8 (25.0) 1 (8.3)
Tinnitus 10 (22.7) 10 (31.3) 0
Vertigo 14 (31.8) 12 (37.5) 2 (16.7)
Cornea veticillata 8 (18.2) 5 (15.6) 3 (25.0)
Other 7 (15.9) 6 (18.8) 1 (8.3)

Data are given as n (%) or median (p25, p75)

COPD chronic obstructive pulmonary disease

aIncluding one index case with asymptomatic Fabry cardiomyopathy and five women identified by family screening