Consenso del Grupo Centroamericano y del Caribe para el Estudio y Tratamiento de la Enfermedad de Fabry

Fabry disease is a lysosomal storage disease caused by alpha galactosidase A enzyme deficiency. The pattern of inheritance is X-linked. The advances on its diagnosis, treatment and follow-up over the last two decades have led to a greater interest among professionals from different specialties, with the resulting increase in the number of newly diagnosed cases in the region. This review and consensus document was developed by physicians of many medical specialties and sub-specialties from the region directly responsible for the health care of patients with Fabry disease. Discussion and analysis of the available evidence, added to the experience of each of the participants, was considered in order to unify criteria and to make recommendations. The aim is to provide a valuable tool for every professional who may potentially become involved in the diagnosis, treatment, and follow-up of these patients in the region. This review covers all the aspects discussed during the last consensus meeting of the Central American and Caribbean Group for the Study and Treatment of Fabry disease, including its objectives, a general introduction to the disease, its clinical manifestations, and the recommended follow-up by the specialty, as well as how to make the diagnosis and clinical management recommendations.