Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests
Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests
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DOI：
10.1186/1471-2377-10-38
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发表时间：
2010-06-07
期刊：
影响因子：
2.6
通讯作者：
Hollak, Carla E. M.
中科院分区：
文献类型：
--
作者：
Biegstraaten, Marieke;van Schaik, Ivo N.;Hollak, Carla E. M.
背景：Fabry患者的症状和体征与自主神经功能障碍相符。这些症状和体征被认为是由于周围神经系统的损害，但在其他疾病中显示自主神经病变的发现，如直立性不耐受和男性性功能障碍，很少在法布里病中报道。我们研究的目的是调查一大群男性和女性法布里患者的自主神经症状和心血管自主神经功能。方法：48名Fabry患者（15名男性，30名接受酶替代治疗）和48名性别和年龄匹配的对照组完成自主神经症状问卷（自主神经症状概况）。36例法布里患者接受了心血管功能测试。结果：自主神经症状谱显示法布里患者的总得分明显高于健康对照组（22比12），但与证实有自主神经病变的患者相比，得分相对较低。法布里患者在直立性不耐受领域的得分低于健康对照组。男性性功能障碍领域的得分在健康对照组和男性法布里患者之间具有可比性。7例患者的心血管自主功能检查仅显示轻度异常。这7例患者均未出现一项以上的异常结果。酶替代疗法与较轻的疾病、较低的ASP评分或较少的心血管功能异常结果无关。结论：Fabry患者的男性性功能和心血管系统的自主神经控制基本正常，这对普遍认为自主神经病变是Fabry病自主神经功能障碍症状和体征的主要原因的假设提出了质疑。可能，终末器官损伤在Fabry患者的症状和体征发展中起关键作用。一种特殊的自主神经病变是另一种不太可能的解释。
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.