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{{Fabry's disease}}
{{Fabry's disease}}


* 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.  
* There is insufficient evidence to recommend routine newborn screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in general papulation.
* 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 (eg, patients with unexplained left ventricular hypertrophy (LVH), young patients with unexplained stroke, and patients with unexplained renal failure proteinuria or microalbuminuria) or those 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]
* According to National society of Genetic Counselors, screening for Fabry's disease for family members of individual affected is recommended by<ref name="pmid32606714">{{cite journal| author=Vardarli I, Rischpler C, Herrmann K, Weidemann F| title=Diagnosis and Screening of Patients with Fabry Disease. | journal=Ther Clin Risk Manag | year= 2020 | volume= 16 | issue= | pages= 551-558 | pmid=32606714 | doi=10.2147/TCRM.S247814 | pmc=7319521 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32606714  }}</ref> :
* 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]
** Measuring [https://www.wikidoc.org/index.php/Alpha-galactosidase alpha-galactosidase] activity in men
** Sequencing the GLA [https://www.wikidoc.org/index.php/Gene gene] in females
** [https://www.wikidoc.org/index.php/Prenatal Prenatal] testing
* According to the 2009 Heart Failure Society of America, screening for Fabry's disease is recommended for all men with sporadic or non-autosomal transmission of <u>unexplained</u> [[cardiac hypertrophy]]. 
* There is insufficient evidence to recommend routine screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in dialysis population.


== References ==
==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.
<br />
[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]


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Revision as of 09:58, 2 April 2022


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  • There is insufficient evidence to recommend routine newborn screening for Fabry's disease in general papulation.
  • According to National society of Genetic Counselors, screening for Fabry's disease for family members of individual affected is recommended by[1] :
  • According to the 2009 Heart Failure Society of America, screening for Fabry's disease is recommended for all men with sporadic or non-autosomal transmission of unexplained cardiac hypertrophy.
  • There is insufficient evidence to recommend routine screening for Fabry's disease in dialysis population.

References


  1. ↑ Vardarli I, Rischpler C, Herrmann K, Weidemann F (2020). "Diagnosis and Screening of Patients with Fabry Disease". Ther Clin Risk Manag. 16: 551–558. doi:10.2147/TCRM.S247814. PMC 7319521 Check |pmc= value (help). PMID 32606714 Check |pmid= value (help).
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