The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

• Main Author: Curiati,Marco A.
• Publication Date: 2017
• Other Authors: Aranda,Carolina S., Kyosen,Sandra O., Varela,Patricia, Pereira,Vanessa G., D’Almeida,Vania, Pesquero,João B., Martins,Ana M.
• Format: Article
• Language: eng
• Source: Journal of Inborn Errors of Metabolism and Screening
• Download full: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100303
• topic: genotype-phenotype correlation; enzyme replacement therapy; alpha-galactosidase A deficiency; dried blood spot on filter paper; screening

Abstract Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only the identification of a pathogenic mutation in the GLA gene allows for a definite diagnosis. The hurdle to be overcome in this field is to determine whether a mutation that has never been described determines a ‘‘classic’’ or ‘‘nonclassic’’ phenotype, because this will have an impact on the decision-making for treatment initiation. Besides the enzymatic determination and GLA gene mutation determination, researchers are still searching for a good biomarker, and it seems that plasma lyso-Gb3 is a useful tool that correlates to the degree of substrate storage in organs. The ideal time for treatment initiation for children and nonclassic phenotype remains unclear.