Autonomic skin responses in females with Fabry disease

TY - JOUR

T1 - Autonomic skin responses in females with Fabry disease

AU - Møller, Anette Torvin

AU - Bach, Flemming W.

AU - Feldt-Rasmussen, Ulla

AU - Rasmussen, Ase K

AU - Hasholt, Lis

AU - Sommer, Claudia

AU - Kølvraa, Steen

AU - Jensen, Troels Staehelin

PY - 2009/9/1

Y1 - 2009/9/1

N2 - 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.

AB - 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.

U2 - 10.1111/j.1529-8027.2009.00227.x

DO - 10.1111/j.1529-8027.2009.00227.x

M3 - Journal article

C2 - 19909479

SN - 1529-8027

VL - 14

SP - 159

EP - 164

JO - Journal of the Peripheral Nervous System Online

JF - Journal of the Peripheral Nervous System Online

IS - 3

ER -