Differentiation between Fabry disease and multiple sclerosis diagnosis

Takeaway

  • A concentration of plasma globotriaosylsphingosine (LysoGb3) <3.5 ng/mL in dried blood spot (DBS) testing rules out Fabry disease (FD) in people with presumptive multiple sclerosis (MS).

Why this matters

  • People with FD are often misdiagnosed with MS due to the similar symptoms and lack of specific tests to confirm MS diagnosis.

  • Currently there is no simple blood test to aid in the diagnosis of FD; earlier diagnosis of FD leads to earlier enzyme treatment, which can prevent disease progression and lead to improved clinical outcomes.