title: Gaucher's disease in pregnancy.
abstract: Gaucher's disease is an autosomal recessive lysosomal storage disease, resulting from a deficiency of the enzyme glucocerebrosidase, important for the physiologic recycling of cell membrane lipids. The clinical symptoms and disease presentations of Gaucher's disease are heterogeneous, including hepatosplenomegaly, bone "crisis" and fracture, anemia, thrombocytopenia and in some forms, rapid neurological decompensation. Similarly, the genetic variability of Gaucher's disease is diverse, and in some aspects affects phenotypic expression. Type 1 Gaucher's disease, however, usually present with less severe symptoms, at more advanced age, and is particularly amenable to enzyme replacement therapy with alglucerase. In type 1 patients with Gaucher's disease reproductive age is commonly reached and childbearing frequently desired with need for appropriate prenatal diagnosis, counseling and careful obstetrical surveillance. Although pregnancy concurrent with Gaucher's disease has been reported in the medical literature, only one small series of alglucerase treated Gaucher's disease during pregnancy exists. Without treatment, pregnancy concurrent with Gaucher's disease has several risks including an increased severity of anemia and thrombocytopenia that can potentiate postpartum bleeding, significant increases in organomegaly and possibly an increased spontaneous abortion rate. It is yet to be shown whether alglucerase reduces the risk of these complications during pregnancy and whether its use has any adverse effect on fetal development.
authors.affiliation: Department of Obstetrics and Gynecology, Bowman Gray School of Medicine, Wake Forest University, Winston-Salem, North Carolina 27157, USA.
authors.forename: J S
authors.initials: JS
authors.lastname: Rosnes
authors.forename: M F
authors.initials: MF
authors.lastname: Sharkey
authors.forename: J C
authors.initials: JC
authors.lastname: Veille
authors.forename: E
authors.initials: E
authors.lastname: Mueller-Heubach
mesh_terms: D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology / Q000628:therapy; D011256:Pregnancy Outcome; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase