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Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients
Yan Lok Tiffany Lam1, Bun Sheng2, Hoi Ming Kwok3
1Department of Medicine & Geriatrics, Princess Margaret Hospital, 2-10 Princess Margaret Hospital Road, Lai Chi Kok, Hong Kong Special Administrative Region, Hong Kong. tiffanylamyanlok@hotmail.com.
Insights
Vertebrobasilar dolichoectasia (VBD) is common in Chinese Fabry disease (FD) patients. Increased basilar artery diameter aids in diagnosing FD and predicting neurological issues like stroke and white matter hyperintensities.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A gene.
- FD is recognized as a cause of early-onset stroke and leukoencephalopathy.
- Vertebrobasilar dolichoectasia (VBD), characterized by an enlarged basilar artery, is frequently observed in FD patients.
Purpose of the Study:
- To investigate the diagnostic utility of VBD in Chinese FD patients.
- To compare basilar artery (BA) diameter in Chinese FD patients versus age-matched controls with and without stroke.
- To assess the association between BA diameter and stroke occurrence and white matter hyperintensities (WMH) in FD.
Main Methods:
- A matched case-control study included 37 Chinese FD patients.
- Basilar artery (BA) diameters were measured using T2-weighted MRI.
- BA diameters were compared to two control groups (with and without stroke) matched for age and gender.
Main Results:
- FD patients exhibited significantly larger BA diameters than both control groups (p < 0.001).
- Specific BA diameter cut-offs (4.16 mm for stroke subgroup, 3.21 mm for non-stroke subgroup) showed high accuracy in distinguishing FD.
- Larger BA diameter correlated with increased stroke incidence and moderate association with WMH severity (Fazekas score).
Conclusions:
- VBD is a relevant finding in Chinese FD patients.
- BA diameter is a valuable diagnostic marker for identifying FD in patients with stroke or other neurological findings.
- BA diameter has predictive value for neurological complications in FD.
Background:
Fabry disease (FD) is an X-linked lysosomal storage disease resulting from mutations of α-galactosidase A gene, and has been emphasized as one of the etiologies of young stroke and leukoencephalopathy. Vertebrobasilar dolichoectasia (VBD) is a highlighted finding in FD. We aim to examine the utility of VBD in Chinese FD by comparing the differences in basilar artery (BA) diameter of Chinese FD patients against age-matched controls with and without stroke.
Methods:
This was a matched case-control study involving 37 Chinese FD patients. The BA diameters were evaluated on axial T2-weighted magnetic resonance imaging and compared to two age-and-gender matched control groups, one with stroke and one without. The association between BA diameter and stroke occurrences and white matter hyperintensities (WMH) were analyzed among all FD patients.
Results:
Patients with FD had significantly increased BA diameter compared to controls with and without stroke (p < 0.001). A BA diameter of 4.16 mm could distinguish FD from controls in the stroke subgroup (ROC AUC 0.870, p = 0.001, sensitivity 80% specificity 100%), and with a cut-off of 3.21 mm in the non-stroke subgroup (ROC AUC 0.846, p < 0.001, sensitivity 77.8% specificity 88.9%). Larger BA diameter had more stroke occurrences and was moderately associated with heavier WMH load in terms of higher total FAZEKAS scores. (Spearman's rho = 0.423, p = 0.011).
Conclusion:
VBD was also present in Chinese FD patients. BA diameter has high diagnostic utility in identifying FD from a mixed cohort of stroke and normal controls, and carried predictive value in evaluating neurological complications of FD.
