Anderson–Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid accumulation in cardiac cells, associated with a peculiar form of hypertrophic cardiomyopathy (HCM). Up to 1% of patients with a diagnosis of HCM indeed have AFD. With the availability of targeted therapies for sarcomeric HCM and its genocopies, a timely differential diagnosis is essential. Specifically, the therapeutic landscape for AFD is rapidly evolving and offers increasingly effective, disease-modifying treatment options. However, diagnosing AFD may be difficult, particularly in the non-classic phenotype with prominent or isolated cardiac involvement and no systemic red flags. For many AFD patients, the clinical journey from initial clinical manifestations to diagnosis and appropriate treatment remains challenging, due to late recognition or utter neglect. Consequently, late initiation of treatment results in an exacerbation of cardiac involvement, representing the main cause of morbidity and mortality, irrespective of gender. Optimal management of AFD patients requires a dedicated multidisciplinary team, in which the cardiologist plays a decisive role, ranging from the differential diagnosis to the prevention of complications and the evaluation of timing for disease-specific therapies. The present review aims to redefine the role of cardiologists across the main decision nodes in contemporary AFD clinical care and drug discovery.

中文翻译：

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安德森-法布里疾病管理：心脏病专家的作用

安德森-法布里病 (AFD) 是一种溶酶体贮积症，其特征是心肌细胞中糖脂积聚，与一种特殊形式的肥厚性心肌病 (HCM) 相关。高达 1% 的 HCM 诊断患者确实患有 AFD。随着针对肌节 HCM 及其基因拷贝的靶向治疗的出现，及时的鉴别诊断至关重要。具体而言，AFD 的治疗领域正在迅速发展，并提供越来越有效的疾病缓解治疗方案。然而，诊断 AFD 可能很困难，特别是在具有突出或孤立的心脏受累且没有全身危险信号的非经典表型中。对于许多 AFD 患者来说，由于认识较晚或完全忽视，从最初的临床表现到诊断和适当治疗的临床过程仍然充满挑战。因此，治疗开始较晚会导致心脏受累加剧，这是发病和死亡的主要原因，无论性别如何。AFD 患者的最佳管理需要一个专门的多学科团队，其中心脏病专家发挥着决定性作用，范围从鉴别诊断到并发症的预防以及疾病特异性治疗时机的评估。本综述旨在重新定义心脏病专家在当代 AFD 临床护理和药物发现的主要决策节点中的作用。