Structural and functional changes in peripheral vasculature of Fabry patients.
OBJECTIVE
Fabry disease is a lysosomal storage disorder due to deficient alpha-galactosidase A activity, which leads to glycosphingolipid accumulation especially in vascular smooth-muscle and endothelial cells. Little is known about the effects of Fabry disease on peripheral artery function and structure. Therefore, we aimed to further characterize the peripheral vascular structural and functional changes in Fabry disease.


RESULTS
We measured structural and functional vascular parameters, including intima-media thickness (IMT) of brachial and carotid arteries and abdominal aorta, carotid and aortic compliance, and brachial artery flow-mediated dilatation (FMD) in 17 Fabry patients and 34 healthy controls matched for age, sex and smoking. Carotid IMT (0.64 +/- 0.15 vs 0.57 +/- 0.12 mm), brachial IMT (1.02 +/- 0.25 vs 0.74 +/- 0.18 mm), and aortic IMT (0.31 +/- 0.09 vs 0.26 +/- 0.04 mm) were significantly increased, and brachial FMD was significantly impaired (6.3 +/- 5.0 vs 9.7 +/- 3.9%) in Fabry patients compared to healthy controls (p < 0.05 in all comparisons after adjustments for age, LDL-cholesterol, and systolic blood pressure). No differences were observed in arterial compliance between the groups.


CONCLUSIONS
These data suggest that Fabry disease affects arterial function and structure by disturbing peripheral endothelial function and promoting intima-media thickening.
Kalliokoski
Riikka J
RJ
Turku PET Centre, University of Turku, Turku, Finland. riikka.kalliokoski@tyks.fi
Kalliokoski
Kari K
KK
Penttinen
Maila
M
Kantola
Ilkka
I
Leino
Aila
A
Viikari
Jorma S
JS
Simell
Olli
O
Nuutila
Pirjo
P
Raitakari
Olli T
OT
D000328:Adult; D016022:Case-Control Studies; D002518:Ceramides / Q000378:metabolism; D002675:Child, Preschool; D004730:Endothelium, Vascular / Q000473:pathology*; D000795:Fabry Disease / Q000378:metabolism* / Q000473:pathology*; D005260:Female; D006028:Glycosphingolipids / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D032389:Myocytes, Smooth Muscle / Q000378:metabolism; D017539:Tunica Intima / Q000473:pathology; D017540:Tunica Media / Q000473:pathology; D000519:alpha-Galactosidase / Q000378:metabolism
D002518:Ceramides; D006028:Glycosphingolipids; D000519:alpha-Galactosidase