How to diagnose Fabry disease

The examination of α-Gal A enzymatic activity can be performed on a Dried Blood Spot (DBS) test. Determination of pronounced α-Gal A deficiency is the definitive method of diagnosis in men.¹ 

Enzyme analysis alone is often inconclusive due to random X-chromosomal inactivation in females. The plasma lyso-GL-3 concentration is valuable to support the diagnosis of Fabry disease in both males and females. Complementary diagnostic testing of α-Gal A activity with lyso-GL-3 substantially improves the diagnostic value for the detection of Fabry disease in females.¹ 

A positive test result should be followed by genotyping to confirm Fabry disease in female patients. For male patients molecular testing should be performed to identify GLA genetic variants.¹

The family screening

Test the patient, test the family and diagnose the patient early: for every diagnosed Fabry patient, up to 5 other family members may be affected.²

^{The figure is reproduced by Sanofi based on Bandera S. et al. 2020, figure 3¹}

If these first-line tests do not result in a diagnosis and the patient shows symptoms (such as cardiomyopathy, nephropathy, neuropathy or stroke) associated with different genetic afflictions, it is possible to analyze multiple genes at once using Next Generation Sequencing (NGS) techniques, such as a cardiomyopathy, nephropathy, neuropathy or stroke gene panel.

Please contact a genetic centre for more information.

Fabry disease is a rare condition with available, disease specific treatment