Open Access

Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease

  • Authors:
    • Yan Ouyang
    • Bing Chen
    • Xiaoxia Pan
    • Zhaohui Wang
    • Hong Ren
    • Yaowen Xu
    • Liyan Ni
    • Xialian Yu
    • Li Yang
    • Nan Chen
  • View Affiliations

  • Published online on: February 26, 2018     https://doi.org/10.3892/etm.2018.5889
  • Pages: 3733-3742
  • Copyright: © Ouyang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Although plasma globotriaosylsphingosine (lyso‑Gb3) is a promising biomarker of Fabry disease (FD), few studies have assessed the impact of lyso‑Gb3 in patients with FD. A total of 38 patients diagnosed with FD at Ruijin Hospital between January 2012 and December 2014 were recruited in the current study. An additional 120 unrelated healthy individuals were selected as healthy controls. A simplified liquid chromatography‑tandem mass spectrometry (LC‑MS/MS) assay was performed to determine lyso‑Gb3 levels in plasma. Protein precipitation and glycolipid extraction were conducted using acetone/methanol. Clinical performance, including diagnostic value and disease surveillance, were compared between plasma lyso‑Gb3 levels and α‑galactosidase A (α‑gal A) enzyme activity. The overall coefficient of variation values between inter‑ and intra‑days varied between 2.8 and 18.9% and linearity correlation coefficients were ≥0.99 for all assays. Therefore, the effectiveness of the LC‑MS/MS method was validated. Furthermore, a cut‑off value of 0.81 ng/ml plasma lyso‑Gb3 was able to separate patients with FD from healthy individuals. The sensitivity of this cut‑off was 94.7% and the specificity was 100%. Compared with α‑gal A enzyme activity, the diagnostic rate of patients assessed using plasma lyso‑Gb3 levels was similar; however, there was a tighter correlation between plasma lyso‑Gb3 levels and the mainz severity score index score in male patients (r=0.711 vs. r=‑0.687). The sensitivity of plasma lyso‑Gb3 in diagnosing female patients with FD was higher than α‑gal A enzyme activity (82.4 vs. 23.5%). To the best of our knowledge, the present study is the first to report the effectiveness of plasma lyso‑Gb3 levels in diagnosing Chinese patients with FD. Using α‑gal A activity as a reference, the results of current study indicated that plasma lyso‑Gb3 levels are more useful at diagnosing female patients with FD. Furthermore, plasma lyso‑Gb3 levels are more suitable at determining overall disease severity in male patients.
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April-2018
Volume 15 Issue 4

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Copy and paste a formatted citation
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Spandidos Publications style
Ouyang Y, Chen B, Pan X, Wang Z, Ren H, Xu Y, Ni L, Yu X, Yang L, Chen N, Chen N, et al: Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease. Exp Ther Med 15: 3733-3742, 2018
APA
Ouyang, Y., Chen, B., Pan, X., Wang, Z., Ren, H., Xu, Y. ... Chen, N. (2018). Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease. Experimental and Therapeutic Medicine, 15, 3733-3742. https://doi.org/10.3892/etm.2018.5889
MLA
Ouyang, Y., Chen, B., Pan, X., Wang, Z., Ren, H., Xu, Y., Ni, L., Yu, X., Yang, L., Chen, N."Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease". Experimental and Therapeutic Medicine 15.4 (2018): 3733-3742.
Chicago
Ouyang, Y., Chen, B., Pan, X., Wang, Z., Ren, H., Xu, Y., Ni, L., Yu, X., Yang, L., Chen, N."Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease". Experimental and Therapeutic Medicine 15, no. 4 (2018): 3733-3742. https://doi.org/10.3892/etm.2018.5889