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

G. Passaro, L. L. Sicignano, R. Flore, M. G. Massaro, E. Verrecchia, L. Gerardino, M. Crasti, L. Santoro, R. Manna, P. Tondi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)845-855
Number of pages11
JournalEuropean Review for Medical and Pharmacological Sciences
Issue number2
Publication statusPublished - 2021


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

ASJC Scopus subject areas

  • Pharmacology (medical)


Dive into the research topics of 'Arterial involvement in Fabry disease: State of the art and future diagnostic purposes'. Together they form a unique fingerprint.

Cite this