法布里病(FD)是X连锁的，由α-半乳糖苷酶A基因变体引起的罕见遗传性溶酶体贮积病，导致α-半乳糖苷酶A酶活性缺陷或检测不到。在多种细胞类型和器官中，致病性球形核糖基神经酰胺及其脱酰化形式的球形核糖基鞘氨醇的逐渐积累被认为是FD的主要病理生理学，以引发的促炎级联反应作为替代的关键病理过程。临床表现可能表现为早期发作和多系统受累(皮肤，神经学,肾脏和心血管系统）具有经典表型的进行性疾病性质，或出现由错义变异引起的以心脏受累为主的晚期病程(非经典或心脏变异;例如台湾的IVS4+919G>A)。无论哪种形式,心脏受累的特点是进行性心脏肥大，心肌纤维化，各种心律失常，和被称为法布里心肌病的心力衰竭，有心脏猝死的潜在风险。几种血浆生物标志物和成像模式的进展以及新的参数，用于心肌组织表征或超声心动图变形的心脏磁共振（CMR：自然T1/T2标测），在与心肌病的其他病因区分方面显示出有希望的表现，并被认为有助于评估FD的心脏受累程度以及指导或监测后续治疗。早期识别心脏外危险信号，无论是经典形式的还是心脏变异中心脏表现的危险信号，多专业团队工作的意识仍然是在不可逆的器官损伤之前及时管理和治疗干预措施（例如口服伴侣疗法或酶替代疗法）的有益反应的基石。我们旨在根据文献综述和FD相关心肌病临床实践的差距或未来观点总结当代知识，以期在台湾形成当前的专家共识。
Fabry disease (FD) is an X-linked, rare inherited lysosomal storage disease caused by α-galactosidase A gene variants resulting in deficient or undetectable α-galactosidase A enzyme activity. Progressive accumulation of pathogenic globotriaosylceramide and its deacylated form globotriaosylsphingosine in multiple cell types and organs is proposed as main pathophysiology of FD, with elicited pro-inflammatory cascade as alternative key pathological process. The clinical manifestations may present with either early onset and multisystemic involvement (cutaneous, neurological, nephrological and the cardiovascular system) with a progressive disease nature in classic phenotype, or present with a later-onset course with predominant cardiac involvement (non-classical or cardiac variant; e.g. IVS4+919G>A in Taiwan) from missense variants. In either form, cardiac involvement is featured by progressive cardiac hypertrophy, myocardial fibrosis, various arrhythmias, and heart failure known as Fabry cardiomyopathy with potential risk of sudden cardiac death. Several plasma biomarkers and advances in imaging modalities along with novel parameters, cardiac magnetic resonance (CMR: native T1/T2 mapping) for myocardial tissue characterization or echocardiographic deformations, have shown promising performance in differentiating from other etiologies of cardiomyopathy and are presumed to be helpful in assessing the extent of cardiac involvement of FD and in guiding or monitoring subsequent treatment. Early recognition from extra-cardiac red flag signs either in classic form or red flags from cardiac manifestations in cardiac variants, and awareness from multispecialty team work remains the cornerstone for timely managements and beneficial responses from therapeutic interventions (e.g. oral
chaperone therapy or enzyme replacement therapy) prior to irreversible organ damage. We aim to summarize contemporary knowledge based on literature review and the gap or future perspectives in clinical practice of FD-related cardiomyopathy in an attempt to form a current expert
consensus in Taiwan.
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