Basilar Artery Diameter Is a Potential Screening Tool for Fabry Disease in Young Stroke Patients

Abstract

Background: Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age. Enlarged basilar artery diameters (BADs) have been demonstrated in FD, and we hypothesize that they might be useful for the screening of FD in young stroke patients. The aim of this study was to compare BADs of young stroke patients without FD to those of FD patients and of healthy age-matched controls. Methods: BADs were measured using MR angiography in 3 age- and gender-matched groups: 25 FD patients (aged 36.5 ± 11.0 years), 26 non-FD stroke patients and 20 healthy controls. Results: Compared to the non-FD stroke patients, FD patients had significantly enlarged BADs. FD patients could be significantly separated from stroke patients by BADs (area under the curve = 0.89, 95% confidence interval 0.81–0.98). Eighty-six percent of all subjects could be correctly classified by BADs (sensitivity 84%, specificity 88.5%). Conclusions: Enlarged BADs were able to detect FD within a cohort of FD, stroke patients and healthy controls. BAD measurement could be an easily obtainable and sensitive screening tool for FD in young stroke patients.

Basilar Artery Changes in Fabry Disease

“…Nonetheless, the characterization of the evolution of basilar artery changes in FD remains rather elusive. Azevedo et al 19 found increased basilar artery diameter values in older patients with FD, whereas Fellgiebel et al 14,15 and Uçeyler et al 16 found no association with age. The present study showed that the basilar artery diameter increases significantly with age in the female subgroup, whereas male patients with FD and both male and female control patients do not change significantly over time.…”

“…[9][10][11][12][13] A few studies applied a semiquantitative or quantitative approach with MRA 3D reconstructions (2 studies with 1.5T and 1 with 3T scanner), [14][15][16]19 T2 axial images (van der Tol L, personal communication), either T2 axial images or MRA, 17 or axial partitions of MRA (present study). Despite different methods, sequences, and scanners used for the measurement and the different ways to present study findings (different patient subgrouping, mean or median value, etc), all studies consistently showed the increase of the basilar artery diameter in patients with FD compared with control patients (On-line Table 2).…”

“…[3][4][5] Increased vessel tortuosity has been found in the retina 6 and in the skin, 7,8 and intracranial artery dolichoectatic changes have been repeatedly observed in patients with FD during both pathologic and neuroimaging evaluations. [9][10][11][12][13][14][15][16][17] Hitherto, most of the latter studies either referred to small samples or evaluated single specific aspects of artery dolichoectasia (such as the vessel lumen diameter). In addition, these studies applied different quantification methods or semiquantitative scores for the severity of the intracranial FD-related vessel changes, leading to conflicting results about the role of sex, age, and treatments.…”

Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta

“…Vertebrobasilar dolichoectasia seems to be the earliest finding in relation to cerebrovascular damage in patients with FD (personal observation in press). Certain authors have demonstrated that measuring the diameter of the basilar artery may be a useful monitoring tool, as this has been the only parameter which separated general population with a stroke (group control) from patients with FD and stroke (Fellgiebel et al 2011).…”

New risk factors of stroke in young adults

“…Ряд исследований показал, что изме-нение диаметра основной артерии является инфор-мативным маркером данной болезни [82]. Имеются сведения о раннем развитии атеросклероза и высо-ком уровне гомоцистеина у пациентов с болезнью Фабри [83].…”