Introduction Most studies narrowly focus on pregnancy outcomes comparisons between Wilson Disease (WD) patients on and off treatment. We aimed to identify menses irregularities in untreated WD and evaluate pregnancy outcomes in treated WD compared with matched controls (with and without liver disease). Methods Women with WD, women with Hepatitis C (liver disease controls), and women with other gastrointestinal conditions (controls without liver disease), were identified from two tertiary hospital gastroenterology departments. Gynecological and obstetric data was retrospectively collected. Comparison of gynecological and obstetric outcomes between groups was performed, and regression models were used to further assess obstetric outcomes. Results We identified 18 women with WD, comprising 19 pregnancies under treatment in 11 patients, and 20 women for each control group. Age and liver disease stage between groups was adjusted. The incidence of menses irregularities was higher for WD (late menarche, 83% vs. 10% vs. 10%, p<0.01; irregular cycles, 100% vs. 20% vs. 20%, p<0.01; amenorrhea, 67% vs. 10% vs. 5%, p<0.01). Logistic regression models identified WD as a predictor of miscarriage and low birth weight (OR 6.0; IC 1.1-33.3; p<0.05), but not of birth defects. Neither therapies (D-Pencillamine 300mg or zinc acetate 150mg) nor disease presentation (hepatic or/and neurological) were associated with obstetric complications in WD. Conclusion There was a higher incidence of menses irregularities in untreated women with WD. Additionally, our data suggests that treated WD still carries a higher risk of spontaneous abortion and low birth weight, compared to matched control groups with and without liver disease.
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