Skip to main content
. 2019 Feb 6;21(9):1987–1997. doi: 10.1038/s41436-019-0451-z

Table 2.

Baseline characteristics of male patients with the classic phenotype

Male patients with the classic phenotype
1 2 3 4 5 6 7 8 9 10 11 12 13 14
Variant (amino acid change) p.I253T p.I253T p.C174R p.G144V p.D322E p.G325R p.Y216C p.G183D p.L243F p.D55V; p.Q57L p.R301Q p.G373S p.P259R p.P259R
Baseline information
 Age (years) 62 61 27 35 60 16 34 35 45 25 56 48 45 45
 Weight (kg) 74 58 92.7 66.5 97.07 64 90.5 70 67 100.6 77.6 111.2 101.8 62.7
 Time since Fabry diagnosis (years) 4.6 0.3 2.6 13.4 2.4 0.4 6.2 23.9 9.1 2.6 0.6 0.5 9.9 8.9
 Previous use of ERT Yes No No No No No Yes Yes Yes No No No Yes Yes
 Blood pressure (SBP/DBP, mm Hg) 120/80 NA 120/70 110/63 136/84 130/70 130/90 125/62 117/63 137/96 122/94 119/66 140/80 110/70
 Urine protein (mg/24 hours) 331 1900 1584 240 918 242 400 150 161 198 2351 602 335 1909
 eGFRCKD-EPI (mL/min/1.73 m2) 86.78 53.79 44.12 104.9 41.36 151.35 119.22 109.68 102.24 98.08 55.71 64.55 105.36 86.34
 LVMi (g/m2) 176.18 142.78 77.36 114.93 140.79 77.86 102.06 101.77 105.02 83.42 137.47 121.68 115.86 105.77
 Urine GL-3 (ng/mg creatinine) 1975 4063.6 1090 2176.2 4163.6 2119.2 3418.9 641.4 4196.6 750.9 1002.4 847.6 2548.6 5245.9
 Plasma lyso-Gb3 (nmol/L) NA NA NA 119.7 81.7 NA 128 NA 109 92.2 NA NA 113.3 53.3
 GSRS-D 1 1 1 4 2 4.7 1.3 1 1 2.7 1 3.3 4 6
 WBC α-Gal A activity (4 MU/h/mg) 0.63 0.58 0.28 0.05 0.2 0.07 BLQ 0.04 0.19 BLQ 0.42 0.29 0.6 0.44
 Use of ACEI/ARB/RI Yes No Yes No No No No Yes Yes No Yes Yes No No
Medical history a
 Acroparesthesia No No No Yes No No No Yes Yes No No No No No
 Angiokeratoma No No No No Yes No Yes Yes Yes Yes No Yes Yes Yes
 Cornea verticillata No No No No No No No No Yes No No No No No
 Cardiac eventb Yes No Yes Yes Yes No No Yes Yes Yes Yes Yes Yes Yes
 TIA/stroke event Yes No No No Yes No No No No No No No No Yes
 Hearing loss Yes No No Yes Yes No No Yes Yes No No No No Yes
 Hypertension No No Yes No Yes No No No No No No Yes No No
 Hypohidrosis No No No Yes No Yes Yes Yes No Yes No No No No
 GI symptomsc No No Yes Yes Yes Yes Yes No No Yes Yes Yes No Yes

ACEI angiotensin-converting-enzyme inhibitor, ARB angiotensin II receptor blocker, BLQ below the limit of quantification, DBP diastolic blood pressure, eGFRCKD-EP estimated glomerular filtration rate using the Chronic Kidney Disease Epidemiology Collaboration equation, ERT enzyme replacement therapy, GI gastrointestinal, GSRS-D Gastrointestinal Symptom Rating Scale diarrhea domain, LVMi left ventricular mass index, NA not assessed, RI renin inhibitor, SBP systolic blood pressure, TIA transient ischemic attack, WBC white blood cell.

a“Yes” indicates reported and “No” indicates not reported. However, medical history may not have been completely reported; therefore, “No” does not necessarily indicate absence of the complication.

bCardiac events include left ventricular hypertrophy, heart failure, heart valve regurgitation, myocardial infarction, bradycardia, right bundle branch block, atrial fibrillation, and tachycardia.

cGI symptoms include diarrhea, nausea, vomiting, gastroesophageal reflux disease, and abdominal pain/distension.