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. 2020 Apr;97(4):655-660.
doi: 10.1111/cge.13694. Epub 2020 Jan 7.

Diagnostic strategy for females suspected of Fabry disease

Sukirthini Balendran  1 , Petra Oliva  2 , Stefaan Sansen  3 , Thomas P Mechtler  2 , Berthold Streubel  1 , Paulina N Cobos  4 , Zoltan Lukacs  4 , David C Kasper  2
Affiliations

Diagnostic strategy for females suspected of Fabry disease

Sukirthini Balendran et al. Clin Genet. 2020 Apr.

Abstract

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.

Keywords: FD diagnosis; Fabry disease; biomarkers; lyso-GL-3; α-galactosidase.

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References

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