Mohamed El Sayed

178 Chapter 5 SUPPLEMENTAL MATERIAL SM1: Patient characteristics per visualized lysoGb3 group LysoGb3 group: Low Low mid High mid High (n=42) (n=71) (n=70) (n=54) Sex - Male 7 (17%) 5 (7%) 24 (34%) 53 (98%) - female 35 (83%) 66 (93%) 46 (66%) 1 (2%) Phenotype - classical 2 (5%) 59 (83%) 47 (67%) 54 (100%) - non-classical 40 (95%) 12 (17%) 23 (33%) 0 (0%) Age 49 (19 - 76) 44 (13 - 76) 48 (14 - 70) 27 (3 - 58) Mutatation type - nonsense 1 (2%) 19 (27%) 23 (33%) 25 (46%) - missense 41 (98%) 47 (66%) 45 (64%) 25 (46%) - other 0 (0%) 4 (5%) 2 (3%) 4 (8%) LysoGb3 (nmol/L) 1.3 (0.4 – 2.2) 4.8 (2.4 - 7.2) 11 (7.3 - 36.2) 105 (38 - 166) Additional risk factors - ever smoked 20 (53%) 26 (43%) 29 (45%) 20 (42%) - Hypertension* 13 (32%) 16 (24%) 17 (24%) 8 (15%) - BMI >30 kg/m2 10 (24%) 17 (24%) 8 (11%) 2 (4%) Any known risk factor 28 (67%) 38 (54%) 41 (59%) 25 (47%) Supplemental table 1. Baseline characteristics of included FD patients per visualized group. Grouping was done for visualization purposes only. Low group (<2.3 nmol/L) and high group (>40 nmol/L) were chosen based on the best cut-off value for classification (classical vs non-classical disease in females and males respectively). The remaining group was cut in half at the median of 7.3 nmol/L to create 2 equally dividedgroups. Data are presented as number (percentage) or median and range, as appropriate.

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