New Conclusions about Fabry Patients and White Matter Lesions

A research team led by Simon Körver of Amsterdam Academic Medical Center, University of Amsterdam’s Department of Endocrinology and Metabolism, has conducted and published in-depth analyses of forty-six published research studies that included the results of brain MRI investigations in 1,276 Fabry disease patients. These research studies were identified using Pubmed, EMBASE and CINAHL databases dated from inception to February 15, 2018. The researchers assessed the prevalence, severity, location and course of white matter lesions in these Fabry disease patients. Prevalence and severity were assessed for all patients combined, as well as divided by gender. They systematically reviewed the studies’ evidence on the relation between white matter lesions, disease characteristics, and clinical parameters.

One of their findings is that men and women showed comparable prevalence and severity of white matter lesions. Males, however, were significantly younger at time of white matter lesion assessment. Follow-up brain MRI in both men and women 38 months later revealed white matter lesion progression in 24.6% of patients, with and without enzyme replacement therapy, but at an earlier age in men.

Among their conclusions is that a significant group of Fabry disease patients has substantial white matter lesions, and male patients develop white matter lesions earlier compared to female patients. They suggested that future studies should focus on longitudinal brain MRI follow-up using state-of-the-art imaging techniques. They also suggested a clinical focus on the consequences of white matter lesions in Fabry disease patients. The article dives deeply into the details of their important findings.