Arterial involvement in Fabry disease: state of the art and future diagnostic purposes

G. Passaro, Ludovico Luca Sicignano, Roberto Antonio Flore, M. G. Massaro, E. Verrecchia, Laura Gerardino, M. Crasti, L. Santoro, Raffaele Manna, Paolo Tondi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

Anderson-Fabry disease (FD) is a rare genetic, progressive, and multi-systemic condition, with X-linked inheritance. This is caused by pathogenic variants in the GLA gene, coding for the lysosomal enzyme called alpha-galactosidase A (aGLA), responsible for the cleavage of globotriaosylceramide (Gb3). The reduced or absent activity of aGLA causes the intracellular accumulation of Gb3, particularly in smooth and endothelial muscle cells, which causes cellular dysfunction. The main organs involved are the central nervous system, heart, and kidneys. However, being a ubiquitous enzyme, FD disease must be considered a systemic disease involving the peripheral nervous system, ocular and audio-vestibular systems. Also, the vascular district is damaged but the pathophysiology of vasculopathy in FD is not yet entirely understood. In literature, many vascular diagnostic tests were used to evaluate this specific involvement in FD, i.e., carotid intima media thickness (cIMT), arterial stiffness (AS), flow-mediated dilation (FMD) and atherosclerotic plaques; evaluation of vascular calcifications in FD patients is not presently available. In this review, we examined the current available literature on vascular aspects in FD. Moreover, we presented our global vascular evaluation, based on Radio Frequency Duplex Ultrasound (RF-DU), plaques, and vascular calcifications, to apply to FD patients.
Lingua originaleEnglish
pagine (da-a)845-855
Numero di pagine11
RivistaEuropean Review for Medical and Pharmacological Sciences
Volume25
DOI
Stato di pubblicazionePubblicato - 2021

Keywords

  • Atherosclerosis
  • Fabry disease
  • Vasculopathy in Fabry disease
  • Vascular calcification
  • Radio frequency duplex ultrasound

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