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Vascular complications of Fabry disease: enzyme replacement and other therapies
Author(s) -
Hughes DA,
Mehta AB
Publication year - 2005
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.1651-2227.2005.tb02107.x
Subject(s) - globotriaosylceramide , fabry disease , enzyme replacement therapy , medicine , disease , fabry's disease , pathology , pathophysiology , vascular disease , lysosomal storage disease
Fabry disease is an X‐linked glycosphingolipid storage disorder resulting from deficiency of α‐galactosidase A. Storage of globotriaosylceramide ultimately results in multiorgan pathology, including cerebrovascular, cardiovascular and renal disease. Vascular involvement is evident throughout the body but the mechanisms by which storage on a cellular level leads to end‐organ pathology are unknown. Here the evidence for abnormal blood flow, vessel architecture and endothelial function will be reviewed and possible models of vascular pathology discussed. The effects of reversal of storage within vessels by enzyme replacement therapy (ERT) and the possibilities for intervention with additional agents will be considered. Conclusion: The pathology of Fabry disease has an important vascular component, although the underlying pathophysiology is unclear. Preliminary evidence suggests that ERT may have beneficial effects on the vascular component of this multisystem disease.