Evolución tórpida de enfermedad de Fabry en tratamiento con agalsidasa alfa: Presentación de un caso

Resumen

Fabry disease is characterized by the absence of activity of the lysosomal enzyme α-galactosidase A, which causes glycolipids, which should be broken down, to accumulate in the lysosomes of the cells of various tissues in the body, causing the signs and characteristic symptoms of this pathology. The severity of the disease depends on the level of mutation of the α-galactosidase A gene, which goes hand in hand with the age at presentation of symptoms, if we have a large mutation, we will have an earlier onset of it. For women, it is more frequent that the course of this condition is asymptomatic, most of them function as transmitters of Fabry disease, on the contrary, it has a predilection towards men. The most frequent clinical manifestations are angiokeratomas, acroparesthesias, anhidrosis, whorled cornea and in cases of death, they are related to kidney failure due to the progressive kidney failure it causes, heart failure or cerebrovascular disease. There is no cure for this deficiency, but we can stop its progress. For this purpose, two treatments have been developed: the first is enzyme replacement with agalsidase beta and the second with agalsidase alfa, whose effectiveness we will evaluate in a patient with Fabry disease compared to studies with enzyme replacement therapy with agalsidase beta.