背景:法布里病(FD)是一种罕见的X连锁溶酶体贮积症,由α-半乳糖苷酶A(α-GalA)缺乏引起。球形神经酰胺的进行性积累导致危及生命的并发症,包括肾,心脏,和脑血管疾病。为了改善FD患者的医疗保健,了解其预测因素很重要。我们研究的目的是评估FD中与健康相关的生活质量(HrQol),并通过探索广泛的人口统计学来确定其独立的决定因素。社会和临床参数。
结果:在这项横断面多中心研究中,在德国和瑞士的三个欧洲专业中心招募了135名FD成年患者。人口统计,社会地位和临床参数以及HrQol数据(EQ5D,EQVAS)和抑郁症通过自我报告问卷收集,并通过病历确认。通过单变量和多变量回归分析评估HrQol及其预测因子。研究人群由78名女性和57名男性FD患者(中位年龄48岁)组成,其中80.7%(N=109)接受酶替代疗法(ERT),10.4%(N=14)接受伴侣治疗。单因素分析显示多种因素降低HrQol,如年龄>40岁,经典表型,器官受累(肾脏和心脏病,中风/短暂性脑缺血发作(TIA),胃肠道紊乱),抑郁症,和灼热的四肢疼痛。然而,只有以下因素被确定为HrQol降低的独立预测因子:经典表型,肾脏和心脏疾病,中风/TIA,抑郁症,和灼热的四肢疼痛。ERT和伴侣治疗是HrQol升高的独立决定因素。
结论:可修改的因素,如灼热的肢体疼痛和抑郁,应在旨在改善FD中HrQol的计划中解决确定为HrQol恶化的独立预测因子。多学科方法对于FD患者至关重要,因为不同器官的参与显着损害了受影响患者的HrQol。我们的发现表明,经典表型是HrQol恶化的有力预测因子。
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. The progressive accumulation of globotriaosylceramide results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. In order to improve health care of FD-patients, knowledge of its predictors is important. The aim of our
study was to evaluate health-related quality of life (HrQol) in FD and to identify its independent determinants by exploring a wide range of demographic, social and clinical parameters.
In this cross-sectional multicenter
study, 135 adult patients with FD were recruited at three specialized European centers in Germany and Switzerland. Demographics, social status and clinical parameters as well as data on HrQol (EQ5D, EQ VAS) and depression were collected by means of self-reporting questionnaires and confirmed by medical records. HrQol and its predictors were evaluated by univariate and multivariate regression analyses. The
study population consisted of 78 female and 57 male FD patients (median age 48 yrs) of whom 80.7% (N = 109) were on enzyme replacement therapy (ERT) and 10.4% (N = 14) were on
chaperone treatment. Univariate analysis revealed various factors reducing HrQol such as age > 40 years, classic phenotype, organ involvement (kidney and heart disease, stroke/transient ischemic attack (TIA), gastrointestinal disturbances), depression, and burning limb pain. However, only the following factors were identified as independent predictors of decreased HrQol: classic phenotype, kidney and heart disease, stroke/TIA, depression, and burning limb pain. ERT and
chaperone therapy were independent determinants of increased HrQol.
Modifiable factors, such as burning limb pain and depression, identified as independent predictors of HrQol-deterioration should be addressed in programs aiming to improve HrQol in FD. A multidisciplinary approach is essential in FD-patients since diverse organ involvement prominently compromises HrQol in affected patients. Our findings showed that the classic phenotype is a strong predictor of worsening HrQol.