Twenty-four-month [alpha]-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters

• Published in: Journal of inherited metabolic disease 2008-05, Vol.31 (3), p.432
• Main Authors: Koskenvuo, J W, Hartiala, J J, Nuutila, P, Kalliokoski, R, Viikari, J S, Engblom, E, Penttinen, M, Knuuti, J, Mononen, I, Kantola, I M
• Format: Article
• Language: English
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-008-0848-3

Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A enzyme activity. Decreased enzyme activity leads to accumulation of glycosphingolipids in different tissues including endothelial cells and smooth-muscle cells and cardiomyocytes, and cardiovascular complications are common in the disease. Since 2001, specific enzyme replacement therapy (ERT) with α-galactosidase A has been available. It has been reported to improve clinical symptoms and quality of life. However, limited and controversial data on its efficacy to cardiac involvement have been published. Nine patients (5 male) with Fabry disease were included in an open-label prospective follow-up study of 24-month ERT. Comprehensive cardiovascular evaluation was performed by MRI, stress echocardiography and quality of life assessment. Plasma globotriaosylceramide decreased from 6.2 to 1.4 μg/ml during ERT (p