A total of 11 948 females suspicious of Fabry disease were tested by a combined biochemical and genetic approach. The enzyme activity, together with the concentration of lyso‐GL‐3 (lyso‐Gb3) biomarker in dried blood spots (DBS), substantially improved the diagnostic detection of Fabry disease in females compared to the enzyme activity alone. Abnormal values for both were highly suspicious of Fabry disease (97% positive predictive value [PPV], similar to PPV in males). In cases with one abnormal biochemical value, elevated lyso‐GL‐3 is a far more important indicator than low enzyme activity (39% PPV vs 6% PPV). Cases with clearly negative results for both biochemical parameters are unlikely to have Fabry disease, even in clinically highly suspicious cases.

中文翻译：

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法布里氏病疑似女性的诊断策略

结合生化和遗传方法对总共11 948名可疑法布里病女性进行了测试。与单独的酶活性相比，酶活性以及干血斑（DBS）中lyso-GL-3（lyso-Gb3）生物标志物的浓度大大改善了女性法布里病的诊断检测。两者的异常值都高度怀疑法布里病（97％阳性预测值[PPV]，与男性中的PPV相似）。在生化值异常的情况下，升高的lyso‐GL-3比低酶活性（PPV分别为39％和6％PPV）重要得多。即使在临床高度可疑的情况下，两个生化参数结果均明显为阴性的病例也不太可能患有法布里病。