Fabry Disease Cardiac Involvement: Strengthen the Understanding of Early Diagnosis and Treatment / 罕见病研究

ABSTRACT

Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations of the GLA gene, resulting in the decreased a-galactosidase A activity and the accumulation of its substrate globotriasylceramide (GL-3) in the heart, kidney and other organs. The main clinical manifestations of cardiac involvement in Fabry disease are left ventricular hypertrophy (LVH), myocardial fibrosis, heart failure and arrhythmia, which limit quality of life and represent the most common causes of death. Following the development of enzyme activity and genetics testing, diagnosis of Fabry disease is no longer difficult. The application of enzyme replacement therapy (ERT) has also significantly slow disease progression. Therefore, early diagnosis and treatment have become essential in the management of Fabry disease cardiac involvement. Electrocardiogram, echocardiography and cardiac magnetic resonance(CMR) allow early detection of suspected patients. In addition, with the approval of oral chaperone therapy and substrate reduction therapy, the Fabry disease specific treatment landscape is evolving. This article will review the general features, pathophysiology, diagnosis and treatment of Fabry disease with cardiac involvement.