Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Second Department of Internal-Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
J Ultrasound Med. 2023 Oct;42(10):2315-2330. doi: 10.1002/jum.16254. Epub 2023 May 20.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with variable phenotypes, including neurological symptoms. These can be influenced by vascular impairment. Extracranial and transcranial vascular sonography is an effective and noninvasive method for measuring arterial structures and blood flow. The study aims to investigate cerebrovascular phenotype characteristics in FD patients compared to controls using neurosonology.
This is a single-center, cross-sectional study of 130 subjects-65 patients (38 females), with genetically confirmed FD, and 65 sex- and age-matched controls. Using ultrasonography, we measured structural and hemodynamic parameters, including distal common carotid artery intima-media thickness, inner vertebral artery diameter, resting blood flow velocity, pulsatility index, and cerebral vasoreactivity (CVR) in the middle cerebral artery. To assess differences between FD and controls and to identify factors influencing investigated outcomes, unadjusted and adjusted regression analyses were performed.
In comparison to sex- and age-matched controls, FD patients displayed significantly increased carotid artery intima-media thickness (observed FD 0.69 ± 0.13 mm versus controls 0.63 ± 0.12 mm; P = .0014), vertebral artery diameter (observed FD 3.59 ± 0.35 mm versus controls 3.38 ± 0.33 mm; P = .0002), middle cerebral artery pulsatility index (observed FD 0.98 ± 0.19 versus controls 0.87 ± 0.11; P < .0001), and significantly decreased CVR (observed FD 1.21 ± 0.49 versus controls 1.35 ± 0.38; P = .0409), when adjusted by age, BMI, and sex. Additionally, FD patients had significantly more variable CVR (0.48 ± 0.25 versus 0.21 ± 0.14; P < .0001).
Our results suggest the presence of multiple vascular abnormalities and changes in hemodynamic parameters of cerebral arteries in patients with FD.
法布里病（FD）是一种罕见的 X 连锁溶酶体贮积症，具有多种表型，包括神经症状。这些可能受到血管损伤的影响。颅外和颅脑血管超声检查是一种有效、非侵入性的方法，可用于测量动脉结构和血流。本研究旨在使用神经超声检查研究 FD 患者与对照组之间的脑血管表型特征。
这是一项单中心、横断面研究，共纳入 130 名受试者，其中 65 名患者（38 名女性）为经基因证实的 FD 患者，65 名为性别和年龄匹配的对照组。我们使用超声测量了结构和血流动力学参数，包括颈总动脉内中膜厚度、椎动脉内径、静息血流速度、搏动指数和大脑中动脉的脑血流反应（CVR）。为了评估 FD 与对照组之间的差异，并确定影响研究结果的因素，我们进行了未调整和调整后的回归分析。
与性别和年龄匹配的对照组相比，FD 患者的颈动脉内中膜厚度显著增加（观察 FD 0.69±0.13mm 与对照组 0.63±0.12mm；P=0.0014），椎动脉直径增加（观察 FD 3.59±0.35mm 与对照组 3.38±0.33mm；P=0.0002），大脑中动脉搏动指数增加（观察 FD 0.98±0.19 与对照组 0.87±0.11；P<0.0001），脑血流反应降低（观察 FD 1.21±0.49 与对照组 1.35±0.38；P=0.0409），当按年龄、BMI 和性别调整后。此外，FD 患者的脑血流反应变异性显著更大（0.48±0.25 与 0.21±0.14；P<0.0001）。
我们的研究结果表明，FD 患者存在多种血管异常和脑动脉血流动力学参数变化。
