Anderson-Fabry disease. Conclusion

Abstract

Fabry disease is a hereditary, progressive and multisystemic disorder characterized by variable clinical manifestations and a course that can lead to the death of the patient between the fourth and fifth decades of life if not promptly diagnosed. It is a metabolic, lysosomal storage disorder which is due to the functional deficit of the enzyme alpha-galactosidase A (alfa-GAL A). The deficit alters the metabolism of some glycosphingolipids, mainly globotriaosylceramide (Gb3) and lyso-Gb3 (the deacetylated form), causing their storage in lysosomes of various cell types, especially those of the vascular endothelium. The knowledge of this disease has improved in recent years and it is increasingly clear that it could be a more complex disorder than previously thought and that also other factors are likely to be involved in the onset of its symptoms. (aiaf)