Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease

Area of Science:

• Neurology
• Vascular Medicine
• Genetics

Background:

• Fabry disease (FD) is a rare genetic disorder affecting multiple organs.
• Alterations in basilar artery (BA) anatomy on MRA have been proposed as a feature of FD.
• The clinical and pathophysiological significance of BA remodeling in FD remains unclear.

Purpose of the Study:

• To investigate the association between basilar artery (BA) anatomical metrics and clinical, laboratory, and advanced imaging findings in Fabry disease (FD).
• To assess the longitudinal stability of BA dimensions and tortuosity in FD patients.
• To determine if baseline BA metrics can predict future clinical status in FD.

Main Methods:

• Brain MRIs from 53 FD patients were analyzed for mean BA diameter and tortuosity index.
• Correlations were tested between MRA metrics and clinical, laboratory, and posterior circulation imaging variables.
• A subgroup of 20 patients underwent 2-year follow-up to evaluate longitudinal changes and predictive ability of MRA metrics.

Main Results:

• No significant associations were found between BA diameter/tortuosity and clinical, laboratory, or advanced imaging variables.
• BA diameter and tortuosity remained stable over the 2-year follow-up period (P = .84 and P = .70, respectively).
• Baseline BA metrics did not predict the clinical status of FD patients at follow-up (P = .42 and P = .66).

Conclusions:

• Basilar artery (BA) alterations in Fabry disease (FD) lack meaningful correlation with clinical, laboratory, or imaging findings.
• The observed lack of correlation is consistent over time, indicating stability.
• The clinical relevance of basilar artery dolichoectasia in FD warrants reconsideration.