Supplementary Material for: Blood Pressure Variability in Fabry Disease Patients

<b><i>Introduction:</i></b> Fabry disease is a rare metabolic, multisystemic, and X-linked lysosomal storage disorder. The involvement of the autonomic nervous system is well defined; however, data on the variability of the blood pressure (BP) and heart rate in Fabry disease are largely missing. In this study, we aimed to examine the circadian variations of BP and heart rate variability in Fabry disease patients. <b><i>Methods:</i></b> We recruited 31 consecutive adult (age &gt;18 years) Fabry disease patients (16 males and 15 females) who were regularly followed up in our outpatient clinic between July 2019 and March 2020. We performed ambulatory blood pressure monitoring and echocardiography in all patients. We used standard deviation (SD), coefficient of variation (CV), and average real variability as the measures of variability. We constructed 2 control groups for propensity score matching using age, sex, and eGFR parameters in the first group and adding antihypertensive drug use to the above parameters in the second group. <b><i>Results:</i></b> All BP measurements were significantly lower in the FD group compared to that of the control groups, except the nighttime systolic BP. Regarding nondipping and reverse dipping statuses, FD patients and controls were similar. We found that none of the BP variability measures were higher in FD patients. Regarding heart rate variability data, both the nighttime SD and CV were significantly lower in FD patients compared to those of the controls. <b><i>Conclusion:</i></b> A decrease in heart rate variability, rather than an increase in BP variability, might be an early marker of autonomic involvement in FD.

<b><i>引言:</i></b> 法布雷病（Fabry disease）是一种罕见的代谢性多系统X连锁溶酶体贮积病。其累及自主神经系统的情况已有明确阐述，但关于法布雷病患者血压（BP）与心率变异性的相关数据仍较为匮乏。本研究旨在探讨法布雷病患者的血压昼夜节律变化与心率变异性特征。
<b><i>方法:</i></b> 本研究连续纳入2019年7月至2020年3月期间在我院门诊定期随访的31例成年法布雷病患者（年龄>18岁，其中男性16例、女性15例）。对所有患者均实施动态血压监测与超声心动图检查。本研究采用标准差（SD）、变异系数（CV）及平均真实变异性作为变异性评估指标。我们构建了两组对照人群以进行倾向得分匹配：第一组对照匹配参数为年龄、性别与估算肾小球滤过率（eGFR），第二组则在上述参数基础上额外加入降压药物使用情况作为匹配变量。
<b><i>结果:</i></b> 除夜间收缩压外，法布雷病患者的各项血压测量值均显著低于两组对照人群。在非杓型与反杓型血压状态占比方面，法布雷病患者与对照人群无显著差异。本研究未发现法布雷病患者的血压变异性指标高于对照人群。针对心率变异性数据，法布雷病患者的夜间心率标准差与变异系数均显著低于对照人群。
<b><i>结论:</i></b> 相较于血压变异性升高，心率变异性降低或可作为法布雷病患者自主神经受累的早期生物标志物。