Fabry病对心脏受累的表现及其检测与治疗

Detection and Treatment of Cardiac Involvement in Fabry Disease

Fabry病是X染色体连锁隐性遗传的溶酶体存贮障碍疾病。Fabry病心血管损害很普遍。心脏功能障碍主要是因为鞘糖脂沉积在心肌细胞及传导组织,但是对于心肌病来说最重要的是心肌细胞的增生及纤维化。心电图及超声心动图表现能鉴别不同原因引起的左室肥厚。心脏磁共振不仅用于心脏功能的检测,还可用于组织异常的检测。酶替代疗法可以降低心脏事件的发生率,改善心肌肥厚;在心肌纤维化发展之前进行治疗能改善心脏功能和防止容量负荷的恶化。中年人出现心肌肥厚,在无其他常见原因时应该检测α-半乳糖苷酶是否缺乏。

Fabry disease is an X-linked recessive inheritance lysosomal storage disorder disease.Cardiovascular involvement is common in Fabry disease.It is possible for it to go undetected until a middle aged patient shows signs of myocardial hypertrophy without an obvious cause,at which time they can be tested for a lack of α-galactosidase.However,cardiac dysfunction occurs primarily because of glycosphingolipid deposits in myocardial cells and conduction organization.Other than a lack of α-galactosidase,detection of cardiac involvement in Fabry disease is possible with the use of electrocardiogram and echocardiography,which can help to identify the different causes of left ventricular hypertrophy.Also,cardiac magnetic resonance can be used to detect cardiac function and anomalies.Once identified,treatment with enzyme replacement therapy can reduce the incidence of heart attacks and improve myocardial hypertrophy.Treatment before myocardial fibrosis occurs can improve the patient’s heart function and prevent the deterioration of the load capacity.If middle-aged people have myocardial hypertrophy,in no other common cause should be testing α-galactosidase.