{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:13:09Z","timestamp":1777882389696,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Rare Disease"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Gaucher\u2019s disease (GD), a rare lysosomal storage disorder, primarily affects haematopoietic tissue. Emerging evidence suggests that GD also has an impact on gynaecological well-being, with documented pregnancy-related complications. However, substantial evidence is still lacking, indicating the need for better surveillance of GD-associated gynaecological complications.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>To assess the frequency of gynaecological ailments, pregnancies and pregnancy-related complications and outcomes in women diagnosed with GD in Central and Southeastern Europe.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>An online questionnaire was developed to gather data on gynaecological and reproductive health among female patients aged 18 years or older from five countries (Croatia, Slovenia, Serbia, Northern Macedonia, Bosnia and Herzegovina). The questionnaire was translated to native language of participating countries and distributed by the Croatian Gaucher Association. The study was conducted from December 2021 to March 2022.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>The variables assessed were treatment type, age at diagnosis, reproductive history, frequency of haematological disorders, infertility issues and pregnancy outcomes, as well as comparison of these variables between treated and untreated patients. Descriptive statistics were employed to calculate proportions, and mean values were computed for continuous variables. Fisher\u2019s exact test was used to compare categorical variables.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      The study involved 26 participants. At the time of the study, four of the participants were undergoing substrate reduction therapy (SRT), and the remainder were receiving enzyme replacement therapy (ERT). Patients who received treatment during pregnancy reported a higher frequency of pregnancy-associated bleeding (71.3% vs 22.2%,\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.030). In total, there were 25 pregnancies and 20 births reported, while 11 (42.3%) respondents did not have children. All women conceived naturally, yet three reported difficulties with conception. Women who reported bleeding during pregnancy were more likely to experience issues with conception (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.036) and bleeding during childbirth (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.018). However, no significant difference was observed in relation to bleeding prior to pregnancy (\n                      <jats:italic toggle=\"yes\">p<\/jats:italic>\n                      \u2009=\u20090.529).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>GD does not hinder pregnancy or motherhood, nor does it affect fertility, although it does require proper medical oversight and care. ERT alone may not be sufficient to prevent bleeding events, and detailed studies concerning coagulation might be necessary in pregnant women with GD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/26330040251335665","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T07:45:13Z","timestamp":1745826313000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Navigating gynaecological challenges in Gaucher\u2019s disease: insights from five European countries"],"prefix":"10.1177","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5115-2141","authenticated-orcid":false,"given":"Ljubas","family":"Dominik","sequence":"first","affiliation":[{"name":"Department for Pediatric Infectious Diseases, University Hospital for Infectious Diseases \u2018Dr. Fran Mihaljevi\u0107\u2019, Mirogojska 8, Zagreb 10000, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9671-3341","authenticated-orcid":false,"given":"Krstulovi\u0107 Opara","family":"An\u0111ela","sequence":"additional","affiliation":[{"name":"Clinic for Internal Medicine, Department of Hematology, University Hospital Split, Split, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1126-7523","authenticated-orcid":false,"given":"Wagner","family":"Jasenka","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics, Faculty of Medicine, University J. J. Strossmayer, Osijek, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5842-0911","authenticated-orcid":false,"given":"Durakovi\u0107","family":"Nadira","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Zagreb, Zagreb, Croatia"},{"name":"Division of Hematology, Department of Internal Medicine, University Hospital Center Zagreb, Zagreb, Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,28]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020441"},{"issue":"1","key":"e_1_3_4_3_2","first-page":"72","article-title":"Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history","volume":"12","author":"Baris HN","year":"2014","unstructured":"Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 2014; 12(1): 72\u201381.","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2010.08.012"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(97)80033-9"},{"key":"e_1_3_4_6_2","unstructured":"Serratrice C Revel-Vilk S Kie\u0107-Wilk B The international Working Group on Gaucher Disease. Supportive and symptomatic care specifically for women with Gaucher disease. IWGGD https:\/\/iwggd.com\/wp-content\/uploads\/2023\/10\/Supportive-and-symptomatic-care-females-issues.pdf (2023 accessed 20 April 2022)."},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12382"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199906)61:2<103::AID-AJH5>3.0.CO;2-V"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.d01-2076.x"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2011.08613.x"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2009.04.003"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(95)91494-3"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2012.11.004"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-77"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-45"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.18.2835"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24957"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.4839.761"},{"key":"e_1_3_4_19_2","unstructured":"Croatian Public Health Institute. Croatian Scientific and Statistical Yearbook for 2023 https:\/\/www.hzjz.hr\/statisticki-podaci\/hrvatski-zdravstveno-statisticki-ljetopis-za-2023-g-tablicni-podaci\/. (2023 accessed 20 September 2024)."},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1080\/10245330500067181"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1586\/17474086.2016.1112732"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.5041\/RMMJ.10446"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2003.08.006"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2020.09.027"},{"issue":"1","key":"e_1_3_4_25_2","first-page":"53","article-title":"Replacement therapy for gaucher disease during pregnancy: a case report","volume":"16","author":"Giannubilo SR","year":"2015","unstructured":"Giannubilo SR, Pasculli A, Tidu E, et al. Replacement therapy for gaucher disease during pregnancy: a case report. J Reprod Infertil 2015; 16(1): 53\u201357.","journal-title":"J Reprod Infertil"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2016.10.003"},{"issue":"1","key":"e_1_3_4_27_2","first-page":"76","article-title":"Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials","volume":"57","author":"Lukina E","year":"2020","unstructured":"Lukina E, Balwani M, Belmatoug N, et al. Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials. JIMD Rep 2020; 57(1): 76\u201384.","journal-title":"JIMD Rep"}],"container-title":["Therapeutic Advances in Rare Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/26330040251335665","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/26330040251335665","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/26330040251335665","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T01:10:45Z","timestamp":1777597845000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/26330040251335665"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":26,"alternative-id":["10.1177\/26330040251335665"],"URL":"https:\/\/doi.org\/10.1177\/26330040251335665","relation":{},"ISSN":["2633-0040","2633-0040"],"issn-type":[{"value":"2633-0040","type":"print"},{"value":"2633-0040","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4]]},"article-number":"26330040251335665"}}