Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 Mar 28;20(1):146.
doi: 10.1186/s13023-025-03684-6.

Spanish consensus on managing pregnancy in women with Gaucher disease

Enrique J Calderón  1   2 , Alicia Rodríguez-Fernández  3 , Irene Calderón-Baturone  4 , Rafael Aporta-Rodríguez  5 , Francisco J Del Castillo  6 , Lutgardo García-Díaz  7 , Antonio González-Meneses  8   9 , María Lourdes Hermosín-Ramos  10 , Raquel Yahyaoui  11 , Ignacio Marín-León  12   13
Affiliations
Review

Spanish consensus on managing pregnancy in women with Gaucher disease

Enrique J Calderón et al. Orphanet J Rare Dis. .

Abstract

Gaucher disease can have effects on the development of pregnancy, childbirth, and lactation, with impact on health of both the mother and the newborn. Management of pregnancies in Gaucher patients is further complicated by using of enzyme replacement therapy. Unfortunately, the available scientific evidence is not conclusive because there are not proper clinical trials on this issue. The aim of this work was to establish a management guide to address the main clinical problems before, during and after pregnancy and to provide key information to healthcare professionals, patients, and families. GRADE methodology to evaluate the quality of scientific evidence and develop recommendations was incorporated to elaborate this guide. For final recommendations, a structured consensus 2-round process was carried out using the Delphi method with a Gaucher expert panel. After this process, nine recommendations were elaborated related to pre-pregnant status and genetic counseling and for management during pregnancy, seven related to childbirth, and eight focused on management after delivery and breastfeeding. Regarding the quality of the evidence, values and preferences of patients were also considered. A consensus guide to define and standardize pregnancy management in Gaucher disease considering the best available evidence, complemented by experts' opinions, could be a relevant tool to help patients, nurses, midwives and physicians with little experience in Gaucher disease who do not have access to guidance from Gaucher disease treatment centers of excellence.

Keywords: Gaucher disease; Guideline; Pregnancy.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethical approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: Antonio González-Meneses has received grant for research and honoraria for lectures and travel expenses from Sanofi and Takeda. Ignacio Marín León has received research grants from Sanofi-Genzyme and Rovi, and speaker honorarium from Sanofi-Genzyme. Raquel Yahyaoui has received a speaker honorarium from Sanofi Genzyme and Takeda. Francisco J del Castillo has received research grants and speaker honorarium from Sanofi-Genzyme. Rafael Aporta-Rodríguez, Alicia Rodríguez-Fernández, Enrique J. Calderón, Lutgardo Garcia-Diaz, María Lourdes Hermosin-Ramos and Irene Calderón Baturone declare that they have no conflict of interest for the topic of this article.

References

    1. Aerts JMFG, Kuo CL, Lelieveld LT, van der Boer DEC, Overkleeft HS, Artola M. Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease. Curr Opin Chem Biol. 2019;53:204–15. 10.1016/j.cbpa.2019.10.006. - PubMed
    1. Nalysnyk L, Rotella P, Simeone JC, Hamed A, Weinreb N. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017;22:65–73. 10.1080/10245332.2016.1240391. - PubMed
    1. Weinreb NJ, Camelo JS Jr, Charrow J, McClain MR, Mistry P, Belmatoug N, International Collaborative Gaucher Group. (ICGG) gaucher registry NCT00358943) investigators. gaucher disease type 1 patients from the ICGG gaucher registry sustain initial clinical improvements during Twenty years of imiglucerase treatment. Mol Genet Metab. 2021;132:100–11. 10.1016/j.ymgme.2020.12.295. - PubMed
    1. Elstein Y, Eisenberg V, Granovsky-Grisaru S, Rabinowitz R, Samueloff A, Zimran A, Elstein D. Pregnancies in gaucher disease: a 5-year study. Am J Obstet Gynecol. 2004;190:435–41. 10.1016/j.ajog.2003.08.006. - PubMed
    1. Granovsky-Grisaru S, Aboulafia Y, Diamant YZ, Horowitz M, Abrahamov A, Zimran A. Gynecologic and obstetric aspects of Gaucher’s disease: a survey of 53 patients. Am J Obstet Gynecol. 1995;172(4 Pt 1):1284–90. 10.1016/0002-9378(95)91494-3. - PubMed