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Why should one be concerned about possible neurologic involvement in female carriers for Fabry disease (FD)? Although males are preferentially and more severely involved, most female carriers demonstrate clinical involvement, especially neuropathic pain, albeit at a later age. As an X-linked disorder, males are expected to express the disorder, but similar involvement in females is not expected. As such, FD behaves in some ways more as a dominant than a recessive condition. As suspected by the poets throughout the ages, females are more complicated than males in terms of their genetic makeup. There are 1,098 genes on the X chromosome (vs only a few dozen genes on the Y chromosome), of which one copy is presumed to be inactivated.1 Recent evidence suggests that about 15% of genes on the X chromosome escape inactivation and 10% may have variable inactivation.2 Such variable inactivation could lead to a more complicated clinical spectrum in the X-linked disorders such as FD.
Recent biochemical and …
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