Non-invasive evaluation of arterial involvement in patients affected with Fabry disease

Abstract
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 32 years (SD 13, range 13-56 years), compared with 21 age and sex matched normal controls. All patients were diagnosed with FD by the presence of both clinical signs and a markedly decreased α-galactosidase A activity in leucocytes (<4 nmol/h/mg protein, normal values 25-55 nmol/h/mg protein). No patient had end stage renal disease. Measurements of the radial artery parameters were obtained with a high precision echotracking device (NIUS 02, SMH, Bienne, Switzerland) as previously described.6 7 Briefly, the radiofrequency signal was visualised and the peaks corresponding to the blood-intima and media-adventitia interface were electronically tagged and followed over several cardiac cycles. Internal diameter and wall thickness were then measured with a precision of about 10 μm. Four to six measurements were averaged.6 7 Radial artery IMT was measured 2 cm upstream from the wrist.

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