Anderson-Fabry disease in children: The importance of early diagnosis

Anderson-Fabry disease (OMIM # 301500) is a rare lysosomal storage disease, X-linked transmissed, caused by mutations in the GLA gene that codes for the lysosomal enzyme alpha-galactosidase A, with the consequent multisystem accumulation of neutral glycosphingolipids. The clinical manifestations begin in childhood or adolescence and comprise acroparesthesias, gastrointestinal symptoms, hypohidrosis and mild proteinuria. In adulthood, renal, cardiac and cerebrovascular involvement characterizes the clinical picture and is the main cause of disease-related death. Enzyme replacement therapy (TES), available since 2001, is able to slow the progression of the disease and improve the symptoms, although the response to therapy seems to depend on the stage of the disease. This underlines the importance of an early diagnosis in pediatric age which can allow the timely start of the TES, before irreversible organ damage occurs, thus improving the natural history of the disease.