Abstract
Gaucher disease (GD), characterized by deficient acid β-glucosidase activity, is the
most common lysosomal storage disorder. The disease is progressive with manifestations
that include anemia, thrombocytopenia, organomegaly and bone disease. Pregnancy has
the potential to exacerbate these manifestations, compounding the risk of complications
during pregnancy, delivery and postpartum. Enzyme replacement therapy with imiglucerase,
before and during pregnancy, has demonstrated benefits in reducing the risk of spontaneous
abortion and GD-related complications, especially bleeding during delivery and postpartum.
European Medicines Agency guidelines now indicate that treatment-naive women should
be advised to consider imiglucerase therapy before conception to obtain optimal health,
and that imiglucerase treatment should be considered throughout pregnancy for women
already receiving therapy. Many questions remain, however, on the indications for
treatment and optimal management of women with GD. Based on a comprehensive review
of outcomes in the management of pregnancy in GD, we present recommendations that
aim to optimize patient care around pregnancy, delivery and the postpartum period,
and alert attending physicians to the possible complications of pregnancy and delivery
in GD.
Keywords
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Article info
Publication history
Published online: January 13, 2011
Accepted:
December 22,
2010
Received in revised form:
December 3,
2010
Received:
February 18,
2010
Identification
Copyright
© 2011 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
