The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

Abstract

Background. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical picture in women, the diagnosis of FD has typically been delayed for more than a decade, and the optimal time to initiate treatment remains controversial. Case Presentation. Here, we present two unrelated female patients diagnosed with FD harbouring the same pathogenic GLA variant. We discuss the implications of initiating specific therapy at different stages of the disease, with and without organ involvement (early versus late therapeutic intervention). Conclusions. These clinical cases suggest that initiating specific treatment at an earlier age in women with FD may prevent organ involvement and associated clinical events.

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

“…Enzyme analyses on leukocytes/lymphocytes, biochemical assays demonstrating accumulation and gene analyses can confirm the clinical diagnosis [ 5 , 6 ]. The treatment (enzyme-replacement therapy ERT, hematopoietic stem-cell transplantation HSCT, chaperones and gene therapy) can significantly improve outcomes, but the progressive nature of these diseases makes early diagnosis essential [ 7 , 8 , 9 , 10 ].…”