title: Fabry disease: a rare cause of neuropathic pain.
abstract: Fabry disease is characterized by burning or shooting pains in hands and feet, which have a severe impact on the quality of life of patients. It is therefore of importance that Fabry patients receive adequate diagnosis, counseling, treatment and follow up. This review describes neuropathic pain in classical Fabry disease with the aim to help clinicians to recognize Fabry patients among patients presenting with chronic extremity pain. The diagnostic dilemmas in patients with neuropathic pain and a non-classical disease course are discussed, together with the available diagnostic modalities, pain medication options and the effect of enzyme replacement therapy on small fiber neuropathy.
authors.affiliation: Department of Internal Medicine, div Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. m.biegstraaten@amc.uva.nl
authors.forename: Marieke
authors.initials: M
authors.lastname: Biegstraaten
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
authors.forename: Ivo N
authors.initials: IN
authors.lastname: van Schaik
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
mesh_terms: D000795:Fabry Disease / Q000150:complications* / Q000188:drug therapy; D006801:Humans; D009437:Neuralgia / Q000188:drug therapy / Q000209:etiology*