The availability of enzyme replacement therapy (ERT) and the possibility of improved organ function, quality of life and ultimately life expectancy has stimulated reevaluation of the clinical expression of Fabry disease in females. Recent editions of general medical textbooks now recognize the burden of signs and symptoms found in heterozygotes. The use of the term carrier in this disorder has been questioned. FOS – the Fabry Outcome Survey – has reinforced the high prevalence of disease manifestations occurring in heterozygous females and now provides a mechanism for evaluating the natural history of disease and effects of ERT with agalsidase alfa in a large cohort of female patients.
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