Barbey Frédéric, Dormond Olivier, Monzambani Véronique, Barbey Guillaume, Namdar Mehdi, Monney Pierre
Service de médecine génétique, Département de médecine, CHUV, 1011 Lausanne.
Direction de chirurgie viscérale, Département des services de chirurgie et d'anesthésiologie, CHUV, 1011 Lausanne.
Rev Med Suisse. 2020 Oct 7;16(709):1886-1890.
Fabry disease, an X-linked disease, results from a deficiency of the lysosomal enzyme alpha-galactosidase A, which causes glycosphingolipids accumulation in the body. On the basis of the residual enzymatic activity level, a classical, severe multisystemic form and an attenuated cardiac variant form are distinguished. In all cases, patients can develop hypertrophic cardiomyopathy in adulthood, the severity of which is the leading cause of morbidity and mortality of the disease. The cardiomyopathy is usually isolated in the cardiac variant form, the most common form of the disease, and should be suspected in the presence of relatively specific ECG, echocardiographic and MRI characteristics.
法布里病是一种X连锁疾病，由溶酶体酶α-半乳糖苷酶A缺乏引起，导致鞘糖脂在体内蓄积。根据残余酶活性水平，可区分出经典的严重多系统型和症状较轻的心脏变异型。在所有病例中，患者成年后可发生肥厚型心肌病，其严重程度是该疾病发病和死亡的主要原因。心肌病通常在疾病最常见的心脏变异型中单独出现，当存在相对特异的心电图、超声心动图和磁共振成像特征时应怀疑该病。
