Case Report: Long-standing multisystem Wilson's disease in a pregnant woman with prolonged chelation discontinuation
Year: 2026
Type: article
Study design: Case Report
Abstract: Wilson's disease (WD) is a rare autosomal recessive copper metabolism disorder. Long-standing multisystem WD in pregnancy poses substantial maternal and fetal risks, which deteriorate markedly if copper chelation therapy is completely discontinued. We present a 37-year-old primigravida with a 23-year history of liver, brain, and kidney involvement from WD. She voluntarily discontinued all chelating agents more than a year prior to conception and received no copper-lowering treatment or routine monitoring during gestation. Her non-adherence coincided with progressive neurological impairment in the first trimester and preeclampsia in the third trimester. No multidisciplinary team (MDT) assessment was conducted during prenatal care, yet urgent MDT consultation was initiated when she was admitted at 38 + 5 weeks' gestation with new-onset hypertension (blood pressure 141/92 mmHg), proteinuria (0.609 g/24 h), and serum ceruloplasmin of 81 mg/L. After full interdisciplinary evaluation, the MDT proposed emergency cesarean delivery. A healthy male newborn was delivered (Apgar scores 9-10-10; birth weight 3.42 kg). Despite maternal neurological deterioration and preeclampsia, critical survival of both mother and neonate was achieved through urgent intervention. This case highlights a clinical paradox in which the patient's unique history of periodic intensive decoppering might have contributed to a potential hepatic functional reserve, although this hypothesis remains speculative and unproven. The favorable outcome should not be misinterpreted as evidence that prolonged chelation interruption is tolerable; rather, it underscores the grave risks of non-adherence and the critical role of rescue MDT intervention.
Source: Frontiers in Medicine
Language: English
Topic: Trace Elements in Health
Subfield: Nutrition and Dietetics
Field: Nursing
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W7213454693