A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

  • Alexandrea HolmesEmail author
  • Dawn Laney
Research Report
Part of the JIMD Reports book series (JIMD, volume 21)


Fabry disease (FD) is a lysosomal storage disorder resulting from a deficiency of lysosomal enzyme α-galactosidase A (α-gal A). Reduced or missing α-gal A enzyme results in the storage of globotriaosylceramide (GL3) and related glycosphingolipids in the cellular lysosomes throughout the body. The majority of GL3 buildup occurs in the body’s vasculature resulting in narrowed blood vessels and an increased risk for strokes, transient ischemic attacks, and deep vein thrombosis. Theoretical concerns have been raised about increased pregnancy complications in women affected by FD as glycosphingolipid storage has been found in both maternal- and fetal-derived placental tissues. This retrospective study was conducted to better understand risks for women with FD during pregnancy. Survey questions included queries about prenatal medications, teratogenic exposures, prenatal testing, common pregnancy complications, Fabry symptoms during pregnancy, obstetrical history, and immediate neonatal history. In total, 41 affected women completed the survey. Results indicate several Fabry-related symptoms and features may worsen during pregnancy, including gastrointestinal symptoms, acroparesthesias, proteinuria, headaches, and postpartum depression. Although no life-threatening complications were reported, a statistically significant increased frequency of hypertension was observed when comparing data from this study to the general population (p < 0.05) and previous publications (p < 0.001). Limitations include sample size and recall bias. Though this survey sampling of women was small and required women to recall their past pregnancy experiences, the findings suggest that when pregnant, women with FD should be aware of potential worsening of FD symptoms and may benefit from consulting with a maternal-fetal medicine specialist.


Enzyme Replacement Therapy Fabry Disease Pregnancy Complication Postpartum Depression Intrauterine Death 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Thank you to collaborating institutions that helped spread the word of this survey to their patients. Our acknowledgement and gratitude also to the National Fabry Disease Foundation and Fabry Support and Information Group for distributing information about this survey to the patient mailing list. Thanks to Emory University for funding this study and to Tianchi Zhang, MPH, for providing statistical support. Lastly, thank you to the many women who participated in completing the IFOP survey. We hope the data collected from this survey will further benefit women with Fabry disease.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.University of Oklahoma Health Sciences CenterOklahoma CityUSA
  2. 2.Department of Human GeneticsEmory UniversityAtlantaUSA

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