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Table 4 Factors leading to treatment initiation (females with VUS excluded)

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

Factors

N = 31

n (%)

Neuropathic pain

6 (19.4)

Proteinuria

1 (3.2)

GFR decreased

1 (3.2)

Stroke

2 (6.5)

TIA

1 (3.2)

Cardiac disease

12 (38.7)

GI symptoms

1 (3.2)

Exercise intolerance and hypohidrosis

2 (6.5)

Lyso-Gb3 increased

1 (3.2)

Angiokeratoma

3 (9.7)

Othera

17 (54.8)

  1. Multiple answer, the sum of percentages can be greater than 100%
  2. α-Gal-A, alpha galactosidase A; TIA, transient ischemic attack
  3. aMainly: GLA variant detection (n = 3), confirmatory renal biopsy (n = 3) and acroparesthesias (n = 2); other factors selected by physicians included access to the drug, decreased α-Gal A, presence of cornea verticillata, chronic venous insufficiency or microalbuminuria
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172