Table 1.

Characteristics at first visit of patients ≥18 years old

CharacteristicsMenWomen
ClassicalNonclassicalClassicalNonclassical
Patients138 (27.7%)66 (13.2%)147 (29.5%)148 (29.7%)
Age at first visit38.4 (10.8, 19–65)55.4 (13.1, 19–76)41.5 (13.5, 18–75)43.7 (15.0, 18–79)
Any event before first visit42 (30.4%)27 (40.9%)28 (19.0%)16 (10.8%)
Cardiac event before first visit16 (11.6%)19 (28.8%)11 (7.5%)9 (6.1%)
 Arrhythmia-related event11 (8.0%)18 (27.3%)9 (6.1%)5 (3.4%)
 Ischemia-related event5 (3.6%)1 (1.5%)2 (1.4%)4 (2.7%)
Renal event before first visit12 (8.7%)2 (3%)2 (1.4%)1 (0.7%)
 Renal transplant001 (0.7%)1 (0.7%)
 RRT9 (6.5%)1 (1.5%)00
 eGFR<15 ml/min per 1.73 m23 (2.2%)1 (1.5%)1 (0.7%)0
Cerebral events before first visit15 (10.9%)6 (7%)16 (10.9%)6 (4.1%)
 TIA10 (7.2%)3 (3.5%)9 (6.1%)5 (3.4%)
 Stroke, symptoms >24 h5 (3.6%)3 (3.5%)7 (4.8%)1 (0.7%)
eGFR, ml/min per 1.73 m2101 (7–139)83 (10–136)105 (10–145)95 (10–131)
eGFR<60 ml/min per 1.73 m238/131 (29.0%)18/65 (27.7%)8/142 (5.6%)14/147 (9.5%)
CKD stage A339/131 (33.3%)13/65 (23.6%)20/142 (14.9%)147/116 (13.8%)
LVM, g/m2.742 (21–140)56 (16–99)42 (21–140)36 (16–108)
RWT0.41 (0.24–1.45)0.47 (0.24–0.95)0.48 (0.21–0.93)0.42 (0.24–1.45)
Left ventricular hypertrophy66/105 (62.9%)33/49 (67.3%)59/132 (44.7%)40/128 (31.2%)
Concentric hypertrophy57/105 (54.3%)28/49 (57.1%)47/132 (35.6)32/128 (25.0%)
Concentric remodeling17/105 (16.2%)6/49 (12.2%)18/132 (13.6%)17/128 (13.3%)
LysoGb3, nmol/La111 (32–175)7.8 (1.2–47)9.3 (0.7–42)2.5 (0.4–20)
  • Data are shown as mean (SD, range) or median (range) of continuous variables and number of patients (percentage) for discrete variables. Events represent the number of patients with one or more events before first visit. Arrhythmia-related event included atrial fibrillation, implantation of an implantable cardiac defibrillator or pacemaker, or admission for any rhythm disturbance. Ischemia-related event included myocardial infarction, coronary artery bypass graft surgery, or percutaneous transluminal angioplasty intervention. Left ventricular hypertrophy was defined as follows: LVM: men, ≥49 and women, ≥45. Concentric remodeling was defined as the absence of left ventricular hypertrophy and RWT>0.42. Concentric hypertrophy was defined as left ventricular hypertrophy and RWT>0.42. Upper reference limit lysoGb3 =0.6. TIA, transient ischemic attack.

  • a LysoGb3 was not available for the N215S patient classified as having classical FD.