Autonomic skin responses in females with Fabry disease

J Peripher Nerv Syst. 2009 Sep;14(3):159-64. doi: 10.1111/j.1529-8027.2009.00227.x.


Fabry disease is a genetic lysosomal disorder with dysfunction of the lysosomal enzyme alpha-galactosidase A causing accumulation of glycolipids in multiple organs including the nervous system and with neuropathy as a prominent manifestation. Neurological symptoms include pain and autonomic dysfunction. This study examined peripheral autonomic nerve function in 19 female patients with Fabry disease and 19 sex and age-matched controls by measuring (1) sweat production following acetylcholine challenge; (2) the sympathetically mediated vasoconstrictor responses to inspiratory gasp, stress, and the cold pressor test; and (3) cutaneous blood flow following capsaicin. The vasoconstrictor response to inspiratory gasp was increased in Fabry patients compared to controls (p = 0.03), while the response to cold and mental stress did not change. Female patients with Fabry disease had a reduced sweat response to iontophoresis of acetylcholine (p = 0.04) and a smaller capsaicin-induced flare compared to controls. These findings suggest that female patients both have an impaired C-fiber function and local abnormalities in blood vessels and sweat glands.

MeSH terms

  • Adolescent
  • Adult
  • Autonomic Nervous System / physiopathology*
  • Fabry Disease / physiopathology*
  • Female
  • Humans
  • Middle Aged
  • Nerve Fibers, Unmyelinated / physiology*
  • Skin / blood supply
  • Skin / innervation
  • Skin / physiopathology*
  • Sweat Glands / physiopathology*
  • Sweating / physiology
  • Young Adult