Hoffmann Bjoern, Beck Michael, Sunder-Plassmann Gere, Borsini Walter, Ricci Roberta, Mehta Atul
University Children's Hospital, Heinrich-Heine-University Duesseldorf, Germany.
Clin J Pain. 2007 Jul-Aug;23(6):535-42. doi: 10.1097/AJP.0b013e318074c986.
Fabry disease is a multisystemic life-threatening lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Symptoms of the disease may occur in different organs including kidney, heart, and the nervous system.
To evaluate the nature and prevalence of pain in a large cohort of patients with Fabry disease and to assess the effect of enzyme replacement therapy (ERT) with agalsidase alfa.
Retrospective analysis of the data of 752 patients with Fabry disease (393 females, 353 males) enrolled in the Fabry Outcome Survey, a multicentre database.
The prevalence of pain in male patients was 81.4% (females 65.3%). Mean age at onset of pain was 14.8+/-1.0 year in males (females 19.8+/-1.4 y). Pain was most frequently reported in the hands (males 76%, females 60%) and feet (males 73%, females 52%), but often affected the whole body. Interference of pain with daily life was higher in females than in males, and was observed predominantly for general activities, mood, and normal work. Fifty-eight percent of the patients were on ERT with agalsidase alfa. At 24 and 36 months after commencement of ERT, pain severity classification shifted towards lower severity (P<0.05). Moreover, after 36 months, "average pain" and "pain now" were significantly reduced (P<0.05).
Pain is one of the most prevalent symptoms in Fabry disease with onset early in childhood. ERT with agalsidase alfa significantly reduces pain in this debilitating disorder.
法布里病是一种由α-半乳糖苷酶A缺乏引起的多系统危及生命的溶酶体贮积症。该疾病的症状可能出现在包括肾脏、心脏和神经系统在内的不同器官。
评估一大群法布里病患者疼痛的性质和患病率，并评估阿加糖酶α酶替代疗法（ERT）的效果。
对法布里病结局调查（一个多中心数据库）中登记的752例法布里病患者（393例女性，353例男性）的数据进行回顾性分析。
男性患者疼痛的患病率为81.4%（女性为65.3%）。男性疼痛开始的平均年龄为14.8±1.0岁（女性为19.8±1.4岁）。疼痛最常报告于手部（男性76%，女性60%）和足部（男性73%，女性52%），但常累及全身。女性疼痛对日常生活的干扰高于男性，主要表现在一般活动、情绪和正常工作方面。58%的患者接受阿加糖酶α的ERT治疗。ERT开始后24个月和36个月，疼痛严重程度分类向较低严重程度转变（P<0.05）。此外，36个月后，“平均疼痛”和“当前疼痛”显著减轻（P<0.05）。
疼痛是法布里病最常见的症状之一，在儿童早期发病。阿加糖酶α的ERT可显著减轻这种致残性疾病的疼痛。
