Autonomic skin responses in females with Fabry disease
Corresponding Author
Anette T. Møller
Danish Pain Research Center, University Hospital of Aarhus, Denmark
Anette T. Møller, Danish Pain Research Center, University Hospital of Aarhus, Tokkerbakken 60, 8240 Risskov, Denmark. E-mail: [email protected]Search for more papers by this authorFlemming W. Bach
Department of Neurology, University Hospital of Aalborg, Denmark
Search for more papers by this authorUlla Feldt-Rasmussen
Medical Department of Endocrinology, National University Hospital Copenhagen, Denmark
Search for more papers by this authorÅse K. Rasmussen
Medical Department of Endocrinology, National University Hospital Copenhagen, Denmark
Search for more papers by this authorLis Hasholt
Department of Medical Biochemistry and Genetics, Section of Neurogenetics, University of Copenhagen, Denmark
Search for more papers by this authorClaudia Sommer
Neurologische Klinik Universität, Würzburg, Germany
Search for more papers by this authorSteen Kølvraa
Department of Clinical Genetics, Vejle Hospital, Denmark
Search for more papers by this authorTroels Staehelin Jensen
Danish Pain Research Center, University Hospital of Aarhus, Denmark
Search for more papers by this authorCorresponding Author
Anette T. Møller
Danish Pain Research Center, University Hospital of Aarhus, Denmark
Anette T. Møller, Danish Pain Research Center, University Hospital of Aarhus, Tokkerbakken 60, 8240 Risskov, Denmark. E-mail: [email protected]Search for more papers by this authorFlemming W. Bach
Department of Neurology, University Hospital of Aalborg, Denmark
Search for more papers by this authorUlla Feldt-Rasmussen
Medical Department of Endocrinology, National University Hospital Copenhagen, Denmark
Search for more papers by this authorÅse K. Rasmussen
Medical Department of Endocrinology, National University Hospital Copenhagen, Denmark
Search for more papers by this authorLis Hasholt
Department of Medical Biochemistry and Genetics, Section of Neurogenetics, University of Copenhagen, Denmark
Search for more papers by this authorClaudia Sommer
Neurologische Klinik Universität, Würzburg, Germany
Search for more papers by this authorSteen Kølvraa
Department of Clinical Genetics, Vejle Hospital, Denmark
Search for more papers by this authorTroels Staehelin Jensen
Danish Pain Research Center, University Hospital of Aarhus, Denmark
Search for more papers by this authorAbstract
Fabry disease is a genetic lysosomal disorder with dysfunction of the lysosomal enzyme α-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.
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