ファブリー病が疑われる女性の診断戦略

Diagnostic strategy for females suspected of Fabry disease.

• Sukirthini Balendran
• Petra Oliva
• Stefaan Sansen
• Thomas P Mechtler
• Berthold Streubel
• Paulina N Cobos
• Zoltan Lukacs
• David C Kasper

抄録

ファブリー病が疑われる女性11948人を対象に、生化学的手法と遺伝学的手法を組み合わせた検査を行った。酵素活性と、乾燥血液スポット（DBS）中のバイオマーカーであるリゾ-GL-3（リゾ-Gb3）の濃度を併せて測定することで、酵素活性のみの場合に比べて、女性のファブリー病の診断検出が大幅に向上した。両者の異常値はファブリー病を強く疑うものでした（陽性予測値[PPV]97％、男性のPPVと同程度）。生化学的異常値が1つの症例では、酵素活性の低さよりもlyso-GL-3の上昇の方がはるかに重要な指標となる（39％のPPV対6％のPPV）。両方の生化学的パラメータが明らかに陰性の症例は、臨床的に非常に疑わしい症例であっても、ファブリー病である可能性は低い。

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.

© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.