Severe orthostatic hypotension in a female carrier of Fabry's disease
T. Mutoh, Y. Senda, K. Sugimura, Y. Koike, Y. Matsuoka, I. Sobue, A. Takahashi and M. Naoi
Second Department of Internal Medicine, Fukui Japan Medical School.
A 21-year-old woman in a family with a history of Fabry's disease showed
orthostatic hypotension and whorl-like corneal opacity typical for Fabry's
disease. Biochemical studies revealed that she was a heterozygote of the
Fabry gene. A variety of autonomic function tests demonstrated both
sympathetic and parasympathetic dysfunction. To our knowledge, the present
case is the first report of a heterozygous female carrier of Fabry's
disease presenting dysfunction of the autonomic nervous system.
