Vascular endothelial dysfunction and echocardiographic changes in male and female patients with Fabry disease: a single-center observational study.

INTRODUCTION: Fabry disease (FD) is a progressive X-linked lysosomal storage disorder characterized by the accumulation of pathological glycosphingolipids in a wide range of cells, leading, among others, to vascular endothelial dysfunction. Advanced atherosclerosis, indicated by increased intima-media thickness (IMT), and endothelial injury, characterized by impaired arterial flow-mediated dilatation (FMD), are associated with a higher cardiovascular risk seen in these patients. Next, echocardiography may provide non-invasive insight into cardiac changes that may also correlate with endothelial dysfunction in FD. However, evidence on that relationship is scarce, especially regarding sex differences. Therefore, we aimed to evaluate endothelial function together with echocardiographic changes in a cohort of Polish FD patients. PATIENTS AND METHODS: We assessed brachial artery FMD, measured common carotid artery IMT, and performed transthoracic echocardiography to evaluate cardiac involvement in 31 FD patients without cardiovascular events in medical history (17 male and 14 female patients) and 31 controls matched by age, sex, and body mass index (BMI). RESULTS: FD patients exhibited a 54.8% reduction in FMD response and a 25.0% increase in IMT thickness compared to controls (p < 0.001 for both, also after adjustment for sex, age, and BMI). In echocardiography, FD exhibited increased left ventricular wall thickness, a slightly reduced ejection fraction, and a higher pulmonary artery systolic pressure compared to the controls (p < 0.001 for all, also after adjustment for sex, age, and BMI). There were several associations between FMD/IMT and echocardiographic parameters. No differences in FMD or IMT were observed when comparing male and female FD patients. CONCLUSIONS: Fabry disease is associated with vascular endothelial dysfunction and subclinical arterial wall thickening, as reflected by reduced FMD and increased IMT, respectively. No significant sex-related differences in FMD or IMT were observed in our FD patient group. Overall, these parameters were associated with echocardiographic abnormalities characteristic for FD. Importantly, all of these parameters can be assessed using non-invasive diagnostic methods.