La malattia di Fabry oggi

Fabry disease is a multisystemic, X-linked recessive lysosomal storage disease caused by decreased activity of alpha-galactosidase A that results in lysosomal accumulations of the glycosphingolipid GL-3. Progressive glycolipid accumulation is initially reversible but leads with time to tissue damage and later to organ failure in the third to the fourth decade and early death. It is an underdiagnosed condition leading to a delayed start of therapies and consequently to a lack of efficacy.

Several aspects of the disease have been clarified by research but there still remains much to learn about specific issues. Practitioners should highly suspect Fabry disease in individuals presenting with the signs and symptoms mentioned above, along with the information gleaned from a thorough personal and family history and physical examination. Great effort has been made by screening studies, which should be extended to all the risk categories. The pathogenetic role of new mutations should be investigated. Preliminary studies have shown enzyme replacement therapy and chaperone therapy to be effective when started early. However, new therapies are coming on the horizon and this bodes well for the future of patients suffering from Fabry disease.