Severe orthostatic hypotension in a female carrier of Fabry's disease

Arch Neurol. 1988 Apr;45(4):468-72. doi: 10.1001/archneur.1988.00520280122030.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Autonomic Nervous System Diseases / genetics
  • Autonomic Nervous System Diseases / physiopathology
  • Blood Pressure
  • Corneal Opacity / genetics
  • Fabry Disease / genetics*
  • Fabry Disease / pathology
  • Fabry Disease / physiopathology
  • Female
  • Galactosidases / deficiency
  • Genetic Carrier Screening
  • Heterozygote*
  • Humans
  • Hypotension, Orthostatic / genetics*
  • Hypotension, Orthostatic / physiopathology
  • Lymphocytes / enzymology
  • Male
  • Sural Nerve / pathology
  • Sural Nerve / physiopathology


  • Galactosidases