New markers of Fabry disease

Abstract

To avoid any irreversible organ damage in patients with Fabry disease (FD), therapeutic interventions should be undertaken at an early stage. Unfortunately, early detection of the disease based on clinical symptoms alone is complicated by the fact that all complications of FD are nonspecific and clinically indistinguishable from similar abnormalities that occur in common disorders. Although the diagnosis of FD based on the determination of ��-GAL A activity and GLA gene analysis can be relatively easy in affected males with classical manifestations, in male individuals with attenuated phenotypes and in heterozygous female patients the residual enzyme activity can be significant. In these cases genetic analysis may also be inconclusive due to the difficulty in establishing whether some of the encountered abnormalities in the GLA gene are truly disease-causing mutations. Because of the limitations of the current detection methods for FD, attention is now paid to the identification of biomarkers that allow solid confirmation of the diagnosis as well as monitoring of disease manifestations and therapeutic management.