Abstract
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.
Highlights
Fabry patients have symptoms and signs compatible with autonomic dysfunction
A total of 70 Fabry patients are followed at regular intervals at the outpatient pediatric or adult clinic for inherited metabolic diseases at the Academic Medical Center (AMC)
In this study we found a low prevalence of orthostatic intolerance and male sexual dysfunction in a rather large cohort of Fabry patients
Summary
Fabry patients have symptoms and signs compatible with autonomic dysfunction. Male patients are usually severely affected, but symptoms and signs often appear in female carriers. They consist of skin lesions (angiokeratomas), corneal opacities, cardiac hypertrophy and rhythm disturbances, renal failure, acroparesthesias, defective sweating (hypo- or anhidrosis), abdominal pain and diarrhoea. As several studies have shown small fibre damage [1,2] and accumulation of lipids in the autonomic ganglia in Fabry patients [3], symptoms and signs compatible with autonomic dysfunction have generally been attributed to autonomic neuropathy [4,5,6]. More recently, an- or hypohydrosis has been found to be due to sweat gland dysfunction rather than autonomic neuropathy [7]
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