Pregnancy in Wilson disease – management and outcome

Abstract

Introduction

Wilson disease (WD) is a rare inherited disorder of copper metabolism causing toxic hepatic and neural copper accumulation. Clinical symptoms vary widely, from asymptomatic disease to acute liver failure or chronic liver disease without or with neuropsychiatric symptoms. Continuation of specific medical treatment for WD is recommended during pregnancy, but reports of pregnancy outcomes in WD patients are sparse.

Patients and methods

In a retrospective, multicenter study, 282 pregnancies in 136 WD patients were reviewed. Age at disease onset, age at conception and WD-specific treatments were recorded. Maternal complications during pregnancy, rate of spontaneous abortions and birth defects were analyzed with respect to medical treatment during pregnancy.

Results

Worsening of liver function tests was evident during 16/282 (6%) pregnancies and occurred in undiagnosed patients as well as in those under medical treatment. Liver test abnormalities resolved in all cases after delivery. Aggravation of neurological symptoms during pregnancy was rare (1%) but tended to persist after delivery. The overall spontaneous abortion rate in the study cohort was 73/282 (26%). Patients with an established diagnosis of WD receiving medical treatment experienced significantly fewer spontaneous abortions than patients with undiagnosed WD (Odds ratio: 2.853 [95% CI: 1.634-4.982]). Birth defects occurred in 7/209 (3%) live births.

Conclusion

Pregnancy in WD patients on anti-copper therapy is safe. The spontaneous abortion rate in treated patients was lower than that in therapy-naive patients. Although the teratogenic potential of copper chelators is a concern, the rate of birth defects in our cohort was low. Treatment for WD should be maintained during pregnancy, and patients should be monitored closely for hepatic and neurologic symptoms. This article is protected by copyright. All rights reserved.

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