Fabry’s disease: current pathophysiology

Abstract

Anderson-Fabry disease is an x-linked genetic disorder due to a lysosomal globotriaoylceramide deposition disorder, which causes the deficit or absence of the enzyme A-Galactosidase A.  It has been little studied by health professionals because it has pathophysiological characteristics that can be confused with other pathological variants. Therefore, understanding its current manifestations is essential for an early diagnosis in this type of patients who usually die prematurely due to ignorance of the disease and the various multisystemic affections that EF entails. Technological advances are allowing more exhaustive genetic studies to minimize damage at the level of the affected systems such as: Cardiovascular, pulmonary, dermatological, renal, gastrointestinal and nervous system and thus achieve a better quality of life in individuals affected by this pathology. It is for all these reasons that the review article in question takes place, which has the general objective of analyzing the current pathophysiology of Fabry disease, through the various sources of data reviewed and selected on the basis of criteria such as accuracy, reliability, authenticity and timeliness.