Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function testsReportar como inadecuado

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BMC Neurology

, 10:38

First Online: 07 June 2010Received: 26 November 2009Accepted: 07 June 2010


BackgroundFabry patients have symptoms and signs compatible with autonomic dysfunction. These symptoms and signs are considered to be due to impairment of the peripheral nervous system, but findings indicative of autonomic neuropathy in other diseases, such as orthostatic intolerance and male sexual dysfunction, are infrequently reported in Fabry disease. The aim of our study was to investigate autonomic symptoms and cardiovascular autonomic function in a large cohort of male and female Fabry patients.

MethodsForty-eight Fabry patients 15 male, 30 treated with enzyme replacement therapy and 48 sex- and age-matched controls completed a questionnaire on autonomic symptoms the Autonomic Symptom Profile. Thirty-six Fabry patients underwent cardiovascular function tests.

ResultsThe Autonomic Symptom Profile revealed a significantly higher sum score in Fabry patients than in healthy control subjects 22 versus 12, but a relatively low score compared to patients with proven autonomic neuropathy. Fabry patients scored worse than healthy controls in the orthostatic intolerance domain. Scores in the male sexual dysfunction domain were comparable between healthy controls and male Fabry patients. The cardiovascular autonomic function tests revealed only mild abnormalities in seven patients. None of these seven patients showed more than one abnormal test result. Enzyme replacement therapy was not associated with less severe disease, lower ASP scores or less frequent abnormal cardiovascular function test results.

ConclusionsMale sexual function and autonomic control of the cardiovascular system are nearly normal in Fabry patients, which cast doubt on the general accepted assumption that autonomic neuropathy is the main cause of symptoms and signs compatible with autonomic dysfunction in Fabry disease. Possibly, end-organ damage plays a key role in the development of symptoms and signs in Fabry patients. An exceptional kind of autonomic neuropathy is another but less likely explanation.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2377-10-38 contains supplementary material, which is available to authorized users.

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Autor: Marieke Biegstraaten - Ivo N van Schaik - Wouter Wieling - Frits A Wijburg - Carla EM Hollak


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