Diagnostic utility of different MRI and MR angiography measures in Fabry disease

Area of Science:

• Neurology
• Radiology
• Vascular Medicine

Background:

• Fabry disease (FD) presents with neurological issues like small fiber neuropathy and cerebrovascular disease, including premature stroke.
• Cranial MRI in FD reveals white matter lesions (WML), pulvinar hyperintensities, and vessel abnormalities.
• Comparing MRI findings is crucial for identifying the most effective tool for detecting central nervous system (CNS) involvement in FD.

Purpose of the Study:

• To evaluate and compare the diagnostic utility of various MR imaging findings for detecting CNS involvement in Fabry disease.
• To determine the most sensitive and specific imaging marker for differentiating FD patients from healthy controls.

Main Methods:

• Twenty-five FD patients and 20 age-matched controls underwent structural MRI, MR angiography, and diffusion tensor imaging (DTI).
• Measurements included white matter lesion (WML) volumes, mean diffusivity (MD), and mean cerebral artery diameters.
• Receiver operating characteristic (ROC) analysis was used to assess the diagnostic performance of each imaging measure.

Main Results:

• Enlarged basilar artery diameters significantly differentiated FD patients from controls (AUC = 0.96, p < 0.0005).
• Basilar artery diameter measurements achieved 87% accuracy in classifying individuals (95% sensitivity, 83% specificity).
• WML volumes and global MD values did not show significant differences between FD patients and controls.

Conclusions:

• Basilar artery diameter measurement is a superior MRI marker for distinguishing Fabry disease patients from controls, with 87% accuracy.
• This finding supports the use of basilar artery measurements for early detection and monitoring of brain involvement in FD.
• Further research should explore dilated vasculopathy in FD as a potential screening marker for cerebrovascular diseases, particularly cryptogenic stroke.