Vertebrobasilar Dolichoectasia in Fabry Disease

Cerebrovascular Involvement in Fabry Disease

“…72 Tortuous, dilated cerebral vessels are also found in FD, and similar anatomic findings are also present in ocular vessels of Fabry patients. 73 However, largely overlapping diameter ranges strongly reduce the diagnostic value of this measure in routine clinical practice.…”

Basilar Artery Changes in Fabry Disease

“…According to the Smoker criteria, in addition to a basilar diameter greater than 4.5 mm, the position of the top of the basilar artery (indicative of the length of the artery) and the basilar artery position with respect to the midline (indicative of the tortuosity of the artery) also concur in the identification of dolichoectasic basilar arteries. Politei et al 17 found an increased rate of dolichoectasia in patients with FD, especially among males (55.5% of male patients with FD versus 34.8% of female patients with FD; P ϭ .09). Unfortunately, this study did not include a control population and did not provide the weight of each item (diameter, elongation, and tortuosity) in determining dolichoectasia in the FD population, hampering their precise analysis.…”

“…[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).…”

“…The concomitant cranial displacement of the top of the basilar artery likely determines a higher score at the second item of the Smoker criteria, thus contributing to the high rate of dolichoectasia observed in patients with FD. 17 The measurement of both curved and linear basilar artery length allowed us to precisely quantify the basilar artery tortuosity by a tortuosity index. Although the concomitant increase of the linear length partly hampered the efficacy in detecting basilar artery tortuosity changes, this measure further highlighted the sex-related artery vulnerability in FD, showing a significantly increased basilar artery tortuosity in male patients with FD compared with both female patients with FD and male control patients.…”

“…[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.…”