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Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests.

ABSTRACT: BACKGROUND: Fabry 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. METHODS: Forty-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. RESULTS: The 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. CONCLUSIONS: Male 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.

SUBMITTER: Biegstraaten M

PROVIDER: S-EPMC2892441 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests.

Biegstraaten Marieke M van Schaik Ivo N IN Wieling Wouter W Wijburg Frits A FA Hollak Carla E M CE

BMC neurology 20100607

<h4>Background</h4>Fabry 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 ...[more]

PMID: 20529242

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Project description:BackgroundsCardiac autonomic neuropathy is a common but always overlooked. More convenient diagnostic methods are needed.HypothesisCardiac autonomic neuropathy risk score evaluated by SUDOSCAN has a fine diagnostic efficacy detecting cardiac autonomic neuropathy.MethodsThis is a cross-sectional study among patients with diabetes mellitus. Subjects undertook SUDOSCAN tests and cardiac autonomic reflex tests, including heart rate variability due to Valsalva maneuver, heart rate response due to deep breathing and heart rate response due to standing up. Presenting 2 abnormal results was defined as cardiac autonomic neuropathy.ResultsSubjects with cardiac autonomic neuropathy has significantly higher cardiac autonomic neuropathy risk score (32.88±1.60 vs 27.64±1.24,P = 0.010). Cardiac autonomic neuropathy risk score was correlated significantly with the heart rate response due to deep breathing(P = 0.004). Multiple regression analysis including significant variables showed an independent association of cardiac autonomic neuropathy risk score and heart rate response due to deep breathing (P = 0.031) and age (P = 0.000). In receiver operating characteristic curve analysis evaluating the relationship between cardiac autonomic neuropathy risk score and cardiac autonomic neuropathy, The cut-off value was 20.5, with the sensitivity of 90.48%, the specificity of 29.5%, and the positive predictive value of 46.9%. In two-step diagnostic methods, Setting 20.5 as the cut-off value of cardiac autonomic neuropathy risk score and abnormal heart rate response due to standing up as the second diagnostic step's positive result, and setting 16.5 as the cut-off value of cardiac autonomic neuropathy risk score and abnormal heart rate response due to deep breathing as the second diagnostic step's positive result, both achieved good diagnostic efficacy.ConclusionCardiac autonomic neuropathy risk score evaluated by SUDOSCAN is a good screening test for cardiac autonomic neuropathy. The two-step diagnostic methods could be considered as surrogate diagnostic methods.

Dataset Information

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests.

Publications

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests.

Similar Datasets

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