Anderson-Fabry Disease

THIS DISEASE IS A RARE, INBORN X-LINKED
lysosomal storage disorder. The major substrate of the
deficient alpha-galactosidase A enzyme, globotriaosylceramide,
accumulates in cells of the cardiovascular
system. This leads to structural valvular abnormalities
and enlargement of the heart with left ventricular
hypertrophy, particularly in patients over age 40. The
heart muscle involvement includes cardiomyopathy, but
it may be the only manifestation of this disease. Genetic
abnormalities are X-linked and clinical manifestations in
female heterozygotes are rare. Serious clinical disease,
fortunately, only affects less than 2% of heterozygous
females.
A new therapeutic strategy for treatment of lysosomal
storage diseases with enzyme replacement therapy has
become available.

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