[Pregnancy in Gaucher disease]

J Gynecol Obstet Biol Reprod (Paris). 2014 May;43(5):397-400. doi: 10.1016/j.jgyn.2012.11.013. Epub 2013 Apr 8.
[Article in French]

Abstract

Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase. The association with pregnancy exposes the worsening of the disease and complications of pregnancy and puerperium. We report a case of pregnancy in a woman of 35 years, suffering from Gaucher disease type 1. Pregnancy had a favorable outcome. Complications occurred. They were kept under control. The outcome was favorable. The authors discuss the evolution of the disease during pregnancy and management of complications. They can occur during pregnancy, post-partum and breastfeeding. Support begins with preconception consultation. It involves finding and correcting the biological problems and deficiencies, and management of complications. Genetic counseling is important, it helps prevent inbreeding.

Keywords: Allaitement; Breastfeeding; Conseil génétique; Counseling; Gaucher disease; Grossesse; Hémorragie du post-partum; Maladie de Gaucher; Misoprostol; Post-partum hemorrhage; Pregnancy.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Cesarean Section
  • Female
  • Gaucher Disease / complications
  • Gaucher Disease / therapy*
  • Hepatomegaly / etiology
  • Hepatomegaly / therapy
  • Humans
  • Infant, Newborn
  • Male
  • Postpartum Hemorrhage / etiology
  • Postpartum Hemorrhage / therapy
  • Pregnancy
  • Pregnancy Complications / therapy*
  • Pregnancy Trimester, Third