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Severe orthostatic hypotension in a female carrier of Fabry's disease
1Second Department of Internal Medicine, Fukui Japan Medical School.
Insights
This case study highlights a heterozygous female carrier of Fabry disease who experienced autonomic nervous system dysfunction. This presentation, including orthostatic hypotension, is uncommon in female carriers, suggesting broader clinical implications.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Fabry disease is a rare genetic disorder affecting multiple organs.
- Heterozygous females are typically asymptomatic or mildly affected.
- Autonomic nervous system involvement is a known complication of Fabry disease.
Abstract:
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.