Gynecological history to diagnosis and pregnancy outcomes in diagnosed Wilson’s disease patients under therapy – A bicentric matched-control cohort study

Abstract

Introduction: most studies narrowly focus on pregnancy outcome comparisons between Wilson’s disease (WD) patients on and off treatment. We aimed to identify menses irregularities in untreated WD, and to evaluate pregnancy outcomes in treated WD patients as compared to matched controls (with and without liver disease). Methods: females with WD, hepatitis C (liver disease controls), and other gastrointestinal conditions (controls without liver disease) were identified at two tertiary hospital gastroenterology departments. Gynecological and obstetric data were retrospectively collected. A comparison of gynecological and obstetric outcomes was performed between the groups, and regression models were used to further assess obstetric outcomes. Results: a total of 18 females with WD were identified, comprising 19 pregnancies under treatment in 11 patients, and 20 females were included in each control group. Age and liver disease stage were adjusted between groups.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; CI: 1.1-33.3; p < 0.05) but not of birth defects. Neither therapies (D-penicillamine 300 mg or zinc acetate 150 mg) nor disease presentation (hepatic and/or neurological) were associated with obstetric complications in WD subjects. Conclusion: there was a higher incidence of menses irregularities in untreated females with WD. In addition, our data suggest that treated WD still carries a higher risk of spontaneous abortion and low birth weight when compared to matched control groups with and without liver disease.