Fabry's disease screening: Difference between revisions
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* Various screening methods have been identified but to be suitable for use in the general population it should meet the criteria of being cost effective along with its use thereby causing a significant reduction in morbidity and morality. | |||
* Ideally all screening tests should be implemented in a population with high PPV which includes individuals with a family history of FD. | |||
* Measurement of the accumulated urinary Gb3 has been proposed but its reliability as a biomarker of FD, particularly in females is yet to be proven [1] | |||
==References== | * Screening of patients in high risk groups who may be exhibiting late-onset symptoms of FD but have not yet been diagnosed may be the key to optimising the management of disease in such patients. It can be conducted by measuring plasma galactosidase A activity which documented lower sensitivity and failure in identifying all clinical cases of FD. [2] | ||
* Another screening method of identifying deficient enzyme activity in dried blood spots (DBS) has demonstrated increased reliability and gained validation in diagnosing FD in males but fails to detect about one third of heterozygous females [3] [4] | |||
== References == | |||
[1] Auray-Blais C, Cyr D, Mills K, Giguere R, Drouin R. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J Inherit Metab Dis. 2007;30:106. doi: 10.1007/s10545-006-0444-3. | |||
[2] Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S. Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol. 2008;3:139–145. doi: 10.2215/CJN.02490607. | |||
[3]Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta. 2005;353:201–203. doi: 10.1016/j.cccn.2004.10.019. [PubMed] | |||
[4] Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta. 2001;308:195–196. doi: 10.1016/S0009-8981(01)00478-8. [PubMed] | |||
[[Category:Needs content]] | [[Category:Needs content]] | ||
Revision as of 22:29, 16 August 2020
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- Various screening methods have been identified but to be suitable for use in the general population it should meet the criteria of being cost effective along with its use thereby causing a significant reduction in morbidity and morality.
- Ideally all screening tests should be implemented in a population with high PPV which includes individuals with a family history of FD.
- Measurement of the accumulated urinary Gb3 has been proposed but its reliability as a biomarker of FD, particularly in females is yet to be proven [1]
- Screening of patients in high risk groups who may be exhibiting late-onset symptoms of FD but have not yet been diagnosed may be the key to optimising the management of disease in such patients. It can be conducted by measuring plasma galactosidase A activity which documented lower sensitivity and failure in identifying all clinical cases of FD. [2]
- Another screening method of identifying deficient enzyme activity in dried blood spots (DBS) has demonstrated increased reliability and gained validation in diagnosing FD in males but fails to detect about one third of heterozygous females [3] [4]
References
[1] Auray-Blais C, Cyr D, Mills K, Giguere R, Drouin R. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J Inherit Metab Dis. 2007;30:106. doi: 10.1007/s10545-006-0444-3. [2] Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S. Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol. 2008;3:139–145. doi: 10.2215/CJN.02490607.
[3]Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta. 2005;353:201–203. doi: 10.1016/j.cccn.2004.10.019. [PubMed]
[4] Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta. 2001;308:195–196. doi: 10.1016/S0009-8981(01)00478-8. [PubMed]