title: Autonomic skin responses in females with Fabry disease.
abstract: 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.
authors.affiliation: Danish Pain Research Center, University Hospital of Aarhus, Denmark. anette@torvin.dk
authors.forename: Anette T
authors.initials: AT
authors.lastname: Møller
authors.forename: Flemming W
authors.initials: FW
authors.lastname: Bach
authors.forename: Ulla
authors.initials: U
authors.lastname: Feldt-Rasmussen
authors.forename: Ase K
authors.initials: AK
authors.lastname: Rasmussen
authors.forename: Lis
authors.initials: L
authors.lastname: Hasholt
authors.forename: Claudia
authors.initials: C
authors.lastname: Sommer
authors.forename: Steen
authors.initials: S
authors.lastname: Kølvraa
authors.forename: Troels Staehelin
authors.initials: TS
authors.lastname: Jensen
mesh_terms: D000293:Adolescent; D000328:Adult; D001341:Autonomic Nervous System / Q000503:physiopathology*; D000795:Fabry Disease / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D036421:Nerve Fibers, Unmyelinated / Q000502:physiology*; D012867:Skin / Q000098:blood supply / Q000294:innervation / Q000503:physiopathology*; D013545:Sweat Glands / Q000503:physiopathology*; D013546:Sweating / Q000502:physiology; D055815:Young Adult