Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients
Abstract 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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-07-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02759-6 |
| _version_ | 1827899684346134528 |
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| author | Yan Lok Tiffany Lam Bun Sheng Hoi Ming Kwok Ellen Lok Man Yu Ka Fai Johnny Ma |
| author_facet | Yan Lok Tiffany Lam Bun Sheng Hoi Ming Kwok Ellen Lok Man Yu Ka Fai Johnny Ma |
| author_sort | Yan Lok Tiffany Lam |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-12T23:21:11Z |
| format | Article |
| id | doaj.art-5540acb3fa0a4746bd833d63b2145982 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-12T23:21:11Z |
| publishDate | 2023-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-5540acb3fa0a4746bd833d63b21459822023-07-16T11:27:41ZengBMCOrphanet Journal of Rare Diseases1750-11722023-07-0118111110.1186/s13023-023-02759-6Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patientsYan Lok Tiffany Lam0Bun Sheng1Hoi Ming Kwok2Ellen Lok Man Yu3Ka Fai Johnny Ma4Department of Medicine & Geriatrics, Princess Margaret HospitalDepartment of Medicine & Geriatrics, Princess Margaret HospitalDepartment of Diagnostic and Interventional Radiology, Princess Margaret Hospital, Hong Kong Special Administrative RegionClinical Research Centre, Kowloon West Cluster, Hong Kong Special Administrative RegionDepartment of Diagnostic and Interventional Radiology, Princess Margaret Hospital, Hong Kong Special Administrative RegionAbstract 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.https://doi.org/10.1186/s13023-023-02759-6Fabry diseaseBasilar arteryVertebrobasilar dolichoectasiaIVS4Chinese |
| spellingShingle | Yan Lok Tiffany Lam Bun Sheng Hoi Ming Kwok Ellen Lok Man Yu Ka Fai Johnny Ma Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients Orphanet Journal of Rare Diseases Fabry disease Basilar artery Vertebrobasilar dolichoectasia IVS4 Chinese |
| title | Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients |
| title_full | Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients |
| title_fullStr | Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients |
| title_full_unstemmed | Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients |
| title_short | Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients |
| title_sort | basilar artery diameter as neuroimaging biomarker in chinese fabry disease patients |
| topic | Fabry disease Basilar artery Vertebrobasilar dolichoectasia IVS4 Chinese |
| url | https://doi.org/10.1186/s13023-023-02759-6 |
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