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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Fabry's disease screening

Introduction

Overview

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

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: 
  • 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

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]