Basilar Artery Changes in Fabry Disease

Abstract

Background and purpose: Dolichoectasia of the basilar artery is a characteristic finding of Fabry disease. However, its prevalence, severity, and course have been poorly studied. This study quantitatively evaluated, by MRA, a panel of basilar artery parameters in a large cohort of patients with Fabry disease.

Materials and methods: Basilar artery mean diameter, curved length, "origin-to-end" linear distance (linear length), and tortuosity index ([curved length ÷ linear length] - 1) were retrospectively measured on 1.5T MRA studies of 110 patients with Fabry disease (mean age, 39.4 ± 18.6 years; 40 males) and 108 control patients (mean age, 42.0 ± 18.2 years; 40 males).

Results: Patients with Fabry disease had increased basilar artery mean diameter (P < .001) and basilar artery linear length (P = .02) compared with control patients. Basilar artery curved length and tortuosity index correlated with age in both groups (P < .001), whereas basilar artery linear length correlated with age only in patients with Fabry disease (P = .002). Patients with Fabry disease showed a basilar artery curved length mean increase of 4.2% (9.7% in male patients with Fabry disease versus male control patients), whereas the basilar artery mean diameter had a mean increase of 12.4% (14.3% in male patients with Fabry disease versus male control patients). Male patients with Fabry disease had increased basilar artery mean diameter, curved length, and tortuosity index compared with female patients with Fabry disease (P = .04, P = .02, and P < .001, respectively) and male control patients (P < .001, P = .01, and P = .006, respectively). Female patients with Fabry disease demonstrated an age-dependent increase of basilar artery mean diameter that became significant (P < .001) compared with female control patients above the age of 45 years.

Conclusions: The basilar artery of patients with FD is subjected to major remodeling that differs according to age and sex, thus providing interesting clues about the pathophysiology of cerebral vessels in Fabry disease.

Fig 1.

MIP of an MRA study in A, a 41-year-old male patient with FD and B, a control patient. Note a mild increase of the tortuosity of the basilar artery and a more evident increase of the lumen diameter (compare the basilar artery with the contiguous ICA) C, Drawing of a tortuous basilar artery showing the real curved length (dashed line) and the linear distance between the basilar artery extremes (dotted line).

Fig 2.

Mean basilar artery diameter findings in our study population (patients with FD and control patients) subdivided according to sex (circles represent the value in each patient). This composite plot shows sex- and age-related differences among subgroups; note that a mean basilar artery diameter greater than 4.5 mm could be found at any age among male Fabry patients and almost only after the age of 40 among female Fabry patients.