Fabry's disease screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
Overview
According to National Society of Genetic Counselors, screening for Fabry's disease in the patient's family members is recommended. The early prenatal and newborn screening can be done by α-Gal A enzyme and GLA mutation analyses. Based on the American Heart Failure Society, Fabry's disease screening should be done in males with unexplained cardiac hypertrophy.
Screening
- There is insufficient evidence to recommend routine newborn screening for Fabry's disease in the general population.
- According to the National Society of Genetic Counselors, screening for Fabry's disease for family members of the affected individual is recommended by:
- Measuring alpha-galactosidase activity in men
- Sequencing the GLA gene in females
- Prenatal and preimplantation testing
- Early prenatal diagnosis:
- 10 weeks: α-Gal A enzyme and GLA mutation analyses by chorionic villus sampling
- 15 weeks: α-Gal A enzyme activity by amniocentesis[1]
- Early prenatal diagnosis:
- Newborn screening
- 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.[4]
- There is insufficient evidence to recommend routine screening for Fabry's disease in the dialysis population.
References
- ↑ Kleijer WJ, Hussaarts-Odijk LM, Sachs ES, Jahoda MG, Niermeijer MF (1987). "Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi". Prenat Diagn. 7 (4): 283–7. doi:10.1002/pd.1970070409. PMID 3035532.
- ↑ Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H; et al. (2006). "High incidence of later-onset fabry disease revealed by newborn screening". Am J Hum Genet. 79 (1): 31–40. doi:10.1086/504601. PMC 1474133. PMID 16773563.
- ↑ Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A; et al. (2018). "Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy". J Inherit Metab Dis. 41 (2): 209–219. doi:10.1007/s10545-017-0098-3. PMID 29143201.
- ↑ Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA; et al. (2009). "Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline". J Card Fail. 15 (2): 83–97. doi:10.1016/j.cardfail.2009.01.006. PMID 19254666.