Diagnostic strategy for females suspected of Fabry disease
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Diagnostic strategy for females suspected of Fabry disease. / Balendran, Sukirthini; Oliva, Petra; Sansen, Stefaan; Mechtler, Thomas P; Streubel, Berthold; Cobos, Paulina N; Lukacs, Zoltan; Kasper, David C.
In: CLIN GENET, Vol. 97, No. 4, 04.2020, p. 655-660.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Diagnostic strategy for females suspected of Fabry disease
AU - Balendran, Sukirthini
AU - Oliva, Petra
AU - Sansen, Stefaan
AU - Mechtler, Thomas P
AU - Streubel, Berthold
AU - Cobos, Paulina N
AU - Lukacs, Zoltan
AU - Kasper, David C
N1 - © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
PY - 2020/4
Y1 - 2020/4
N2 - 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.
AB - 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.
U2 - 10.1111/cge.13694
DO - 10.1111/cge.13694
M3 - SCORING: Journal article
C2 - 31860127
VL - 97
SP - 655
EP - 660
JO - CLIN GENET
JF - CLIN GENET
SN - 0009-9163
IS - 4
ER -