Introduction

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting in vascular glycosphingolipid accumulation and increased stroke risk. MRI findings associated with FD include white matter hyperintensities (WMH) and cerebral microbleeds (CMBs), suggesting the presence of cerebral small vessel disease. MRI-visible perivascular spaces (PVS) are another promising marker of small vessel disease associated with impaired interstitial fluid drainage. We investigated the association of PVS severity and anatomical distribution with FD.

Patients and methods

We compared patients with genetically proven FD to healthy controls. PVS, WMH, lacunes and CMBs were rated on standardised sequences using validated criteria and scales, blinded to diagnosis. A trained observer (using a validated rating scale), quantified the total severity of PVS. We used logistic regression to investigate the association of severe PVS with FD.

Results

We included 33 FD patients (median age 44, 44.1% male) and 20 healthy controls (median age 33.5, 50% male). Adjusting for age and sex, FD was associated with more severe basal ganglia PVS (odds ratio (OR) 5.80, 95% CI 1.03–32.7) and higher total PVS score (OR 4.03, 95% CI 1.36–11.89). Compared with controls, participants with FD had: higher WMH volume (median 495.03 mm³ vs 0, p = 0.0008), more CMBs (21.21% vs none, p = 0.04), and a higher prevalence of lacunes (21.21% vs. 5%, p = 0.23).

Conclusions

PVS scores are more severe in FD than control subjects. Our findings have potential relevance for FD diagnosis and suggest that impaired interstitial fluid drainage might be a mechanism of white matter injury in FD.

中文翻译：

---

MRI可见的血管周间隙作为法布里病的成像生物标志物

介绍

法布里病（FD）是X连锁的溶酶体贮积病，导致血管糖鞘脂积聚和中风风险增加。与FD相关的MRI发现包括白质高信号（WMH）和脑微出血（CMB），表明存在脑小血管疾病。MRI可见的血管周间隙（PVS）是与间质液引流受损相关的小血管疾病的另一个有希望的标志。我们调查了PVS严重性和解剖分布与FD的关联。

患者和方法

我们将遗传学证实的FD患者与健康对照进行了比较。对PVS，WMH，内腔和CMBs使用经过验证的标准和量表对标准化序列进行评级，而对诊断不知情。训练有素的观察员（使用经过验证的等级量表）对PVS的总体严重性进行了量化。我们使用逻辑回归研究了严重PVS与FD的关系。

结果

我们纳入了33名FD患者（中位年龄44岁，男性44.1％）和20名健康对照（中位年龄33.5岁，男性50％）。校正年龄和性别后，FD与更严重的基底节PVS相关（比值比（OR）5.80，95％CI 1.03-32.7）和更高的PVS总分（OR 4.03，95％CI 1.36-11.89）。与对照组相比，FD参与者的WMH量更高（中位495.03 mm ³ vs. 0，p  = 0.0008），更多的CMBs（21.21％vs.无，p  = 0.04）和更高的腔内炎患病率（21.21％vs. 5）。 ％，p  = 0.23）。

结论

FD中的PVS评分比对照组更严重。我们的发现与FD诊断潜在相关，并提示间质液引流受损可能是FD中白质损伤的机制。