Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers

Gabor E. Linthorst; Anouk C. Vedder; Johannes M. F. G. Aerts; Carla E. M. Hollak

doi:https://doi.org/10.1016/j.cccn.2004.10.019

Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers

Gabor E. Linthorst, Anouk C. Vedder, Johannes M. F. G. Aerts, Carla E. M. Hollak

Research output: Contribution to journal › Article › Academic › peer-review

102 Citations (Scopus)

Abstract

Introduction. Recently, a method to analyse dried whole blood spots to diagnose Fabry disease (deficiency of the lysosomal enzyme alphaGal A) was described. However given its X-linked inheritance female Fabry patients can exhibit normal alphaGal A activities. This could lead to underestimation in screening females for Fabry disease using this method. Methods. aGal A activity was measured in dried whole blood spots of 21 females with documented Fabry disease. Results. Only 13/21 (67%) had reduced aGal A activities, concluding that one-third of female carriers would not be identified during screening. Additional determination of alphaGlucosidase activity (alphaGlu) and the construction of an alphaGal/alphaGlu ratio did not increase sensitivity of the assay. Conclusion. Assays using alphaGal activity for determination of Fabry disease in females have a high false-negative value. Screening for a-Gal A deficiency by means of whole blood spots should not be performed in a females. (C) 2004 Elsevier B.V. All rights reserved

Original language	English
Pages (from-to)	201-203
Journal	Clinica chimica acta; international journal of clinical chemistry
Volume	353
Issue number	1-2
DOIs	https://doi.org/10.1016/j.cccn.2004.10.019
Publication status	Published - 2005

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https://doi.org/10.1016/j.cccn.2004.10.019

Cite this

@article{f2b2580280714ad68b4068d15f63a1b7,

title = "Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers",

abstract = "Introduction. Recently, a method to analyse dried whole blood spots to diagnose Fabry disease (deficiency of the lysosomal enzyme alphaGal A) was described. However given its X-linked inheritance female Fabry patients can exhibit normal alphaGal A activities. This could lead to underestimation in screening females for Fabry disease using this method. Methods. aGal A activity was measured in dried whole blood spots of 21 females with documented Fabry disease. Results. Only 13/21 (67%) had reduced aGal A activities, concluding that one-third of female carriers would not be identified during screening. Additional determination of alphaGlucosidase activity (alphaGlu) and the construction of an alphaGal/alphaGlu ratio did not increase sensitivity of the assay. Conclusion. Assays using alphaGal activity for determination of Fabry disease in females have a high false-negative value. Screening for a-Gal A deficiency by means of whole blood spots should not be performed in a females. (C) 2004 Elsevier B.V. All rights reserved",

author = "Linthorst, {Gabor E.} and Vedder, {Anouk C.} and Aerts, {Johannes M. F. G.} and Hollak, {Carla E. M.}",

year = "2005",

doi = "https://doi.org/10.1016/j.cccn.2004.10.019",

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volume = "353",

pages = "201--203",

journal = "Clinica chimica acta; international journal of clinical chemistry",

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TY - JOUR

T1 - Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers

AU - Linthorst, Gabor E.

AU - Vedder, Anouk C.

AU - Aerts, Johannes M. F. G.

AU - Hollak, Carla E. M.

PY - 2005

Y1 - 2005

N2 - Introduction. Recently, a method to analyse dried whole blood spots to diagnose Fabry disease (deficiency of the lysosomal enzyme alphaGal A) was described. However given its X-linked inheritance female Fabry patients can exhibit normal alphaGal A activities. This could lead to underestimation in screening females for Fabry disease using this method. Methods. aGal A activity was measured in dried whole blood spots of 21 females with documented Fabry disease. Results. Only 13/21 (67%) had reduced aGal A activities, concluding that one-third of female carriers would not be identified during screening. Additional determination of alphaGlucosidase activity (alphaGlu) and the construction of an alphaGal/alphaGlu ratio did not increase sensitivity of the assay. Conclusion. Assays using alphaGal activity for determination of Fabry disease in females have a high false-negative value. Screening for a-Gal A deficiency by means of whole blood spots should not be performed in a females. (C) 2004 Elsevier B.V. All rights reserved

AB - Introduction. Recently, a method to analyse dried whole blood spots to diagnose Fabry disease (deficiency of the lysosomal enzyme alphaGal A) was described. However given its X-linked inheritance female Fabry patients can exhibit normal alphaGal A activities. This could lead to underestimation in screening females for Fabry disease using this method. Methods. aGal A activity was measured in dried whole blood spots of 21 females with documented Fabry disease. Results. Only 13/21 (67%) had reduced aGal A activities, concluding that one-third of female carriers would not be identified during screening. Additional determination of alphaGlucosidase activity (alphaGlu) and the construction of an alphaGal/alphaGlu ratio did not increase sensitivity of the assay. Conclusion. Assays using alphaGal activity for determination of Fabry disease in females have a high false-negative value. Screening for a-Gal A deficiency by means of whole blood spots should not be performed in a females. (C) 2004 Elsevier B.V. All rights reserved

U2 - https://doi.org/10.1016/j.cccn.2004.10.019

DO - https://doi.org/10.1016/j.cccn.2004.10.019

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