Fabry disease

Treatment

Will it hurt my baby if I become pregnant during treatment for Fabry disease?

Before becoming pregnant, any woman living with Fabry disease wishing to consider pregnancy should discuss their medications with their doctor and a genetic counselor. Although there are case reports of healthy babies born to mothers on enzyme replacement therapy (ERT), no formal human studies have been done to establish the safety and efficacy of ERT or chaperone therapy for Fabry disease during pregnancy. Accordingly, Fabry specialists and obstetrician/gynecologists (ob/gyn) will work closely together to determine when to stop and start Fabry specific medications during pregnancy.

Other drugs that a woman may be taking to manage symptoms of Fabry, such as Dilantin (Phenytoin) or Tegretol (carbamazepine) for hand and foot pain, may also increase the risk of certain birth defects and developmental delays in an unborn baby. If a woman with Fabry disease becomes pregnant unexpectedly, it is important to consult with a doctor as soon as possible to discuss medication use options.

For more information about Fabry disease and pregnancy, please talk to your Fabry doctor or genetic counselor. A Fabry focused healthcare provider can be found on the National Fabry Disease online resource. Genetic counselors can be found on the National Society of Genetic Counselors website: http://www.aboutgeneticcounselors.com/

Holmes, A., & Laney, D. (2015, February 22). A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470955/.

Fabry Disease: Important Facts for Women. (2005, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/Fabry.PDF.

Fabry disease revisited: Management and treatment recommendations for adult patients. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review. https://www.sciencedirect.com/science/article/pii/S1096719217307680?via%3Dihub Retrieved 12DEC19.

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