Table 1

Baseline patient characteristics and treatment

Baseline characteristicsMen, n=22Women, n=31P value
Classic phenotype20 (90.9%)27 (90.0%)0.45
Cardiac involvement14 (63.6)11 (35.5)0.05
Age at baseline (diagnosis of AFD), years34 (6–61)30 (13–67)0.99
Age at ERT initiation, years39 (14–62)43 (16–68)0.71
Time from baseline to ERT initiation, months12 (0–384)12 (0–432)0.72
Patients on ERT21 (95.5)19 (61.3)0.007
Patients on bronchodilators2 (9.1)1 (3.2)0.56
Current or former cigarette smoking7 (31.8%)9 (36.0%)1.00
MSSI, points16 (0–40)8 (0–33)0.01
Residual α-gal activity, %5.5 (1.8–52.8)41.8 (2.2–163.0)<0.001
Lyso-Gb3, ng/mL40.1 (2.0–115.0)8.6 (0.8–23.1)<0.001
FEV1, L3.0 (1.8–4.1)2.4 (1.8–3.3)0.002
FEV1, % predicted86.0 (54.0–116.0)87.0 (66.0–110.0)0.55
FEV1, z-score−2.3 (−4.4–0.7)−1.6 (−3.1–0.2)0.31
FEV1, z-score ≤−1.6413 (56.5%)13 (43.3%)0.41
FVC, L4.2 (2.1–5.4)3.0 (2.3–4.2)<0.001
FVC, % predicted91.0 (76.0–125.0)95.0 (72.0–118.0)0.86
FVC, z-score−1.6 (−3.6–1.1)−1.6 (−2.7–0.7)0.81
FVC z-score ≤−1.646 (27.3)9 (29.0)0.37
FEV1/FVC, %73 (47–88)78 (70–93)0.009
FEV1/FVC, z-score−0.9 (−5.3–1.4)−0.6 (−2.6–1.5)0.12
FEV1/FVC, z-score ≤−1.645 (21.7%)3 (10.0%)0.27
FEF25%–27%, L2.2 (0.7–5.4)1.9 (1.0–5.2)0.36
FEF25%–27%, % predicted54.0 (20.0–119.0)55.5 (26.0–107.0)0.67
FEF25%–27%, z-score−1.4 (−3.5–1.4)−1.2 (−3.6–2.6)0.48
FEF25%–27%, z-score ≤−1.649 (40.9)8 (25.8)0.03
DLCO, % predicted82.0 (63.0–108.0)88. (61.0–115.0)0.44
  • Values are presented as n (%) for categorical variables (P values from Fisher’s exact test) or median (range) for continuous variables (P values from Mann-Whitney U test).

  • AFD, Anderson-Fabry disease; DLCO, CO diffusion capacity of the lung; ERT, enzyme replacement therapy; FEF25%–27%, forced expiratory flow between 25% and 75% of FVC; FEV1, forced expiratory volume in the first second; FVC, forced (expiratory) vital capacity; MSSI, Mainz Severity Score Index; α-gal, α-galactosidase A activity.