Navigating gynaecological challenges in Gaucher's disease: insights from five European countries

Gaucher's 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.

To assess the frequency of gynaecological ailments, pregnancies and pregnancy-related complications and outcomes in women diagnosed with GD in Central and Southeastern Europe.

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.

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's exact test was used to compare categorical variables.

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%, p = 0.030). 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 (p = 0.036) and bleeding during childbirth (p = 0.018). However, no significant difference was observed in relation to bleeding prior to pregnancy (p = 0.529).

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.