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Fabry disease defined: authors’ reply

Sir, We agree with Drs Stromberger and Bodmer that it is inappropriate, in the light of current knowledge, to consider Fabry disease to be a X-linked recessive condition, as most heterozygous females are symptomatic. FOS currently has 545 patients registered of whom 48% are female; 42% of these are receiving enzyme-replacement therapy with agalsidase alpha. Preliminary analysis of the results of treatment suggests improvement in pain, quality of life, left ventricular size, and renal function. Furthermore, there do not appear to be significant differences between males and females with respect to the effectiveness of enzyme-replacement therapy.