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Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series

  • Pehuén FernándezEmail author
  • Shunko Oscar Fernández
  • Jacqueline Griselda Mariela Gonzalez
  • Tabaré Fernández
  • Cinthia Claudia Fernández
  • Segundo Pastor Fernández
Research Report
Part of the JIMD Reports book series (JIMD, volume 45)

Abstract

Fabry disease is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. There is uncertainty regarding the safety of enzyme replacement therapy during pregnancy. We describe the course and outcome of seven pregnancies in six patients with Fabry disease who continued or reinitiated enzyme replacement therapy during pregnancy. No adverse events, in both mothers and children, were observed.

Keywords

Breastfeeding Enzyme replacement therapy Fabry disease Pregnancy Safety 

References

  1. Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M (2003) Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 26(7):617–627CrossRefGoogle Scholar
  2. Bartsch E, Medcalf KE, Park AL, Ray JG (2016) Clinical risk factors for pre-eclampsia determined in early pregnancy: systematic review and meta-analysis of large cohort studies. BMJ 353:i1753CrossRefGoogle Scholar
  3. Beck M (2009) Agalsidasealfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opin Biol Ther 9(2):255–261CrossRefGoogle Scholar
  4. Dehout F, Roland D, Henry F, Langlois A, Van Maldergem L (2006) Successful pregnancy in a patient with Fabry disease receiving enzyme replacement therapy. Acta Paediatr 451(95):137–138Google Scholar
  5. Echevarria L, Benistan K, Toussaint A et al (2016) X-chromosome inactivation in female patients with Fabry disease. Clin Genet 89(1):44–54CrossRefGoogle Scholar
  6. Germain DP (2010) Fabry disease. Orphanet J Rare Dis 5(1):30CrossRefGoogle Scholar
  7. Hughes D, Deegan P, Romero B, Hollak C, Giugliani R (2012) Pregnancy events in females with Fabry disease in the Fabry Outcome Survey. Mol Genet Metab 105(2):S37CrossRefGoogle Scholar
  8. Kalkum G, Macchiella D, Reinke J, Kölbl H, Beck M (2009) Enzyme replacement therapy with agalsidase alfa in pregnant women with Fabry disease. Eur J Obstet Gynecol Reprod Biol 144(1):92–93CrossRefGoogle Scholar
  9. Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Pinto A, Licata G (2013) Anderson-Fabry disease: a multiorgan disease. Curr Pharm Des 19(33):5974–5996CrossRefGoogle Scholar
  10. Villar J, Ismail LC, Victora CG et al (2014) International standards for newborn, weight, and circumference by gestational age and sex: the Newborn Cross-Sectional Study of the INTERGROWTH-21st Project. Lancet 384(9946):857–868CrossRefGoogle Scholar
  11. Wendt S, Whybra C, Kampmann C, Teichmann E, Beck M (2005) Successful pregnancy outcome in a patient with Fabrydisease receiving enzyme replacement therapy with agalsidase alfa. J Inherit Metab Dis 28(5):787–788CrossRefGoogle Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Pehuén Fernández
    • 1
    Email author
  • Shunko Oscar Fernández
    • 1
  • Jacqueline Griselda Mariela Gonzalez
    • 1
  • Tabaré Fernández
    • 1
  • Cinthia Claudia Fernández
    • 1
  • Segundo Pastor Fernández
    • 1
  1. 1.CIDTEF, Centro de Investigación, Diagnóstico y Tratamiento de Enfermedad de Fabry (Research, Diagnosis and Treatment Center for Fabry Disease)San Fernando del Valle de CatamarcaArgentina

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