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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The female Gaucher patient: The impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause)
Blood Cells, Molecules, and Diseases, Volume 43, No. 3, Year 2009
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Description
Background: The principal manifestations of type 1 Gaucher disease (GD) (increased risk of bleeding, anaemia, splenomegaly, hepatomegaly and bone disease) are likely to affect females during reproductive events such as menarche and menstruation; fertility, pregnancy, parity, delivery and lactation; and menopause. In order to determine the optimal management of female Gaucher patients based on available data, we examine reproductive events and GD in untreated and alglucerase and/or imiglucerase-treated females. Methods: A panel of international clinicians experienced in the management of GD reviewed and presented evidence from peer-reviewed literature, a pharmacovigilance database on imiglucerase, and their own clinical experience to support discussions and recommendations. Nine panel members completed a 130-item-questionnaire on the outcomes of the management of female patients in their clinical practice. Results, covering menarche (137 females), menstruation (261 reports), fertility (295 females), pregnancy (416 pregnancies in 247 women) and menopause (45 women) were analysed. Data from a recent Canadian survey on 50 patients with 39 pregnancies, the imiglucerase pharmacovigilance database (100 pregnancies), and relevant literature (56 items covering 398 pregnancies in 205 women) were also reviewed. Key results: Menarche: May be delayed in girls with GD. Menorrhagia: Appears to be more common in GD than in the non-Gaucher population and may be ameliorated by alglucerase and/or imiglucerase treatment (menorrhagia in 67/133 (50.4%) untreated females compared with 37/128 (28.9%) treated; Mann-Whitney U test: p = 0.001). Fertility: There is no evidence of decreased fertility in GD. Pregnancy: Pregnancy in GD may be complicated by haematological disease, organomegaly and bone involvement. GD diagnosis occurs frequently during pregnancy. Questionnaire results demonstrate: a reduced risk of spontaneous abortion in women treated with alglucerase and/or imiglucerase (untreated: 26/189 (13.8%); treated 1/58 (1.7%) χ2 p = 0.010); reduced risk of Gaucher-related complications during delivery (untreated 43/109 (39.4%); treated 3/46 (6.5%) χ2 p < 0.0005): and a reduced risk of Gaucher-related complications during the post partum period (untreated 15/71 (21.1%); treated 3/43 (7%) χ2 p = 0.014). There is no evidence to date of any untoward effect of alglucerase and/or imiglucerase on the fetus, or on infants breast fed by mothers receiving alglucerase and/or imiglucerase. Menopause: The impact of GD on menopause requires further study especially in relation to bone pathology. Conclusions: On the basis of this review, GD may have an impact on reproductive events in affected women. Enzyme therapy may have benefits in reducing menorrhagia, spontaneous abortions and complications associated with delivery and the postpartum period. © 2009 Elsevier Inc. All rights reserved.
Authors & Co-Authors
Zimran, Ari
Israel, Jerusalem
Shaare Zedek Medical Center
Morris, Elizabeth
United Kingdom, Cambridge
Addenbrooke's Hospital
Mengel, Eugen
Germany, Mainz
Johannes Gutenberg-universität Mainz
Kaplan, Paige
United States, Philadelphia
The Children's Hospital of Philadelphia
Belmatoug, Nadia
France, Clichy
Hôpital Beaujon
Hughes, Derralyn A.
United Kingdom, London
Ucl Medical School
Malinova, Vera
Czech Republic, Prague
Všeobecná Fakultní Nemocnice V Praze
Heitner, René
South Africa, Johannesburg
Charlotte Maxeke Johannesburg Academic Hospital
Sobreira, Elisa
Brazil, Sao Paulo
Genzyme do Brazil
Mrsić, Mirando
Croatia, Zagreb
Kbc Zagreb
Granovsky-Grisaru, Sorina
Israel, Jerusalem
Shaare Zedek Medical Center
Amato, Dominick
Canada, Toronto
University of Toronto
vom Dahl, Stephan
Germany, Koln
Universität zu Köln
Statistics
Citations: 59
Authors: 13
Affiliations: 12
Identifiers
Doi:
10.1016/j.bcmd.2009.04.003
ISSN:
10799796
Research Areas
Health System And Policy
Maternal And Child Health
Sexual And Reproductive Health
Study Design
Cross Sectional Study
Study Approach
Quantitative
Participants Gender
Female