PDF(Pubmed)
Abstract：
Fabry disease is a rare X-linked inherited lysosomal storage disorder caused by the absence or reduction of alfa-galactosidase A activity in lysosomes, resulting in accumulation of glycosphingolipids in various tissues. The main organ affected is the heart, which frequently manifests as left ventricular hypertrophy and can ultimately lead to cardiac fibrosis, heart failure, valve disease, cardiac conduction abnormalities and sudden cardiac death. Today we know that myocyte damage starts before these signs and symptoms are detectable on routine studies, during the designated pre-clinical phase of Fabry disease. The initiation of specific therapy for Fabry disease during the early stages of the disease has a great impact on the prognosis of these patients avoiding progression to irreversible fibrosis and preventing cardiovascular complications. Cardiac imaging has become an essential tool in the management of Fabry disease as it can help physicians suspect the disorder, diagnose patients in the early stages and improve outcomes. The recent development of novel imaging techniques makes necessary an update on the subject. This review discusses the role of multimodal imaging in the diagnosis, staging, patient selection for treatment and prognosis of Fabry disease and discusses recent advances in imaging techniques that provide new insights into the pathogenesis of the disorder and the possibility of novel treatment targets.
摘要：
法布里病是一种罕见的X连锁遗传性溶酶体贮积症，由溶酶体中α-半乳糖苷酶A活性缺失或降低引起，导致鞘糖脂在各种组织中的积累。受影响的主要器官是心脏，通常表现为左心室肥厚，并最终导致心脏纤维化，心力衰竭,瓣膜疾病,心脏传导异常和心源性猝死。今天我们知道，在常规研究中可以检测到这些体征和症状之前，心肌细胞就开始受损了，在法布里病的指定临床前阶段。在疾病的早期阶段开始针对Fabry病的特异性治疗对这些患者的预后有很大影响,避免进展为不可逆的纤维化并预防心血管并发症。心脏成像已成为法布里病治疗的重要工具，因为它可以帮助医生怀疑这种疾病，早期诊断患者并改善预后。新成像技术的最新发展使得有必要对该主题进行更新。这篇综述讨论了多模态成像在诊断中的作用，分期,Fabry病的治疗和预后的患者选择，并讨论了成像技术的最新进展，这些技术为该病的发病机理和新治疗靶标的可能性提供了新的见解。
