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Arterial remodelling in Fabry disease
Author(s) -
Boutouyrie P,
Laurent S,
Laloux B,
Lidove O,
Grunfeld JP,
Germain DP
Publication year - 2002
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2002.tb03113.x
Subject(s) - fabry disease , medicine , cardiology , blood pressure , intima media thickness , cohort , fabry's disease , vascular disease , cardiomyopathy , radial artery , disease , enzyme replacement therapy , artery , carotid arteries , heart failure
Aim : The enzymatic defect in Fabry disease results in the slow systemic deposition of uncleaved glycosphingolipids in the lysosomes of vascular endothelium and smooth muscle cells, leading to ischaemic strokes, cardiomyopathy and renal failure. Whereas it is known that Fabry disease affects small blood vessels, little is known about its effects on peripheral large arteries. We therefore set out to compare parameters of arterial wall structure and function in a cohort of patients with Fabry disease and an age‐matched control group. Methods : Large artery phenotype was non‐invasively investigated in 21 hemizygous patients with Fabry disease and 24 age‐matched male controls. Common carotid and radial artery diameter, intima‐media thickness (IMT) and distensibility were determined with high‐definition echotracking systems and aplanation tonometry. Results : Patients with Fabry disease had a significant twofold increase in radial artery IMT and distensibility, independent of body surface area, age and mean blood pressure. In both groups, older age at the time of examination was significantly associated with larger radial artery IMT. The relationship between age and radial IMT was 2.3‐fold higher in patients with Fabry disease than in controls ( p > 0.01). Carotid IMT was mildly but significantly increased in patients with Fabry disease (+18%), whereas distensibility was unchanged. Conclusion : This study presents evidence of a major increase in arterial wall thickness and distensibility, measurable at the site of a medium‐sized artery, in a cohort of patients with classic Fabry disease.