Abstract：
Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and reduced life expectancy. It can affect both males and females and can be classified into classic or later-onset phenotypes. In classic Fabry disease, α-galactosidase A (α-Gal A) activity is absent or severely reduced and disease manifestations have an early onset that can affect multiple organs. In contrast, in later-onset Fabry disease, patients have residual α-Gal A activity and clinical features are primarily confined to the heart. Individualized therapeutic goals in Fabry disease are required due to varying phenotypes and patient characteristics, and the wide spectrum of disease severity. An international group of expert physicians convened to discuss and develop practical clinical recommendations for disease- and organ-specific therapeutic goals in Fabry disease, based on expert consensus and evidence identified through a structured literature review. Biomarkers reflecting involvement of various organs in adult patients with classic Fabry disease are discussed and consensus recommendations for disease- and organ-specific therapeutic goals are provided. These consensus recommendations should support the establishment of individualized approaches to the management of patients with classic Fabry disease by considering identification, diagnosis, and initiation of disease-specific therapies before significant organ involvement, as well as routine monitoring, to reduce morbidity, optimize patient care, and improve patient health-related quality of life.
摘要：
法布里病是一种X连锁遗传性溶酶体疾病，可导致鞘糖脂在体液和组织中积累，导致进行性器官损伤和预期寿命缩短。它可以影响男性和女性，可以分为经典或晚期表型。在经典的法布里病中，α-半乳糖苷酶A(α-GalA)活性缺失或严重降低,并且疾病表现具有可影响多个器官的早期发作。相比之下,在晚发性法布里病中，患者有残留的α-GalA活性，临床特征主要局限于心脏。由于不同的表型和患者特征，需要法布里病的个性化治疗目标，和广泛的疾病严重程度。一个国际专家小组召开会议，讨论和制定关于法布里病疾病和器官特异性治疗目标的实用临床建议，基于专家共识和通过结构化文献综述确定的证据。讨论了反映经典法布里病成年患者各种器官受累的生物标志物，并提供了有关疾病和器官特异性治疗目标的共识建议。这些共识建议应支持建立个性化的方法来管理经典法布里病患者，通过考虑识别，诊断,并在重大器官受累之前开始疾病特异性治疗，以及常规监测，为了降低发病率，优化患者护理，改善患者健康相关生活质量。
