Abstract
Fabry disease is a rare X-linked genetic lysosomal storage disorder caused by mutations in the GLA gene, which results of reduced or absent activity of α-galactosidase A, accumulation of metabolic substrates globotriaosylceramide (GL-3) and derivatives deacylated derivative globotriaosylsphingosine (Lyso-GL-3) in multiple tissues, and multi-organ diseases and even life-threatening complications. Due to the lack of specific symptoms, there is a need to combine the clinical features and the results of enzymatic, biochemical, and genetic tests to realize the early definite diagnosis of Fabry disease. Furthermore, the approval of agalsidase beta/alpha in China will benefit the vast Chinese patients for Fabry disease specific therapies. Based on the evidence-based medicine, this consensus summarizes several main aspects related to Fabry disease, including clinical manifestations, diagnosis and its flow chart, therapies, screening, genetic counseling and prenatal diagnosis, so as to further promote the standardized diagnosis and treatment of Fabry disease.
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