Article Text

Download PDFPDF
Non-invasive evaluation of arterial involvement in patients affected with Fabry disease
  1. Pierre Boutouyriea,
  2. Stéphane Laurenta,
  3. Brigitte Lalouxa,
  4. Olivier Lidoveb,
  5. Jean-Pierre Grunfeldb,
  6. Dominique P Germainc
  1. aDepartment of Pharmacology and INSERM EMIU 0107, Hôpital Européen Georges Pompidou, 75015 Paris, France, bDepartment of Nephrology, Hôpital Necker, Paris, France, cDepartment of Genetics, Hôpital Européen Georges Pompidou, 20 rue Leblanc, 75015 Paris, France
  1. Dr Germain,dominique.germain{at}

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Editor—Fabry disease (FD) (OMIM 301500) is an X linked recessive disease resulting from deficiency of the lysosomal hydrolase α-galactosidase A.1 The enzymatic defect leads to the widespread deposition of uncleaved neutral glycosphingolipids in the plasma and lysosomes, especially in vascular endothelial and smooth muscle cells. Initial clinical signs include skin lesions (angiokeratoma), excruciating acral pain, and benign corneal opacities. Progressive glycosphingolipid deposition in the microvasculature of hemizygous males subsequently leads to failure of target organs and to ischaemic complications involving the kidneys, heart, and brain.2 3 Much interest is currently shown in emerging therapies for FD and recent studies have reported that genetic engineering has removed many of the obstacles to the clinical use of enzyme replacement and that infusions of purified α-galactosidase A are safe and biochemically active.4 5 However, clinical and laboratory indicators of benefit are lacking, given the slow course of the disease. This emphasises the need for non-invasive surrogate endpoints to delineate target organ damage and to monitor the efficacy of enzyme replacement therapies.

Methods and results

In the present study, we determined intima-media thickness (IMT) at the site of the radial artery, a distal, muscular, medium sized artery, in a cohort of 21 hemizygous male FD patients, with a mean age of …

View Full Text