Wilson’s disease in pregnancy: a case series
Wilson’s disease is a rare, autosomal recessive inherited disorder characterized by impaired liver metabolism of copper leading to decreased biliary excretion and incorporation of ceruloplasmin levels mainly in the liver and brain. Untreated Wilson’s disease has been shown to cause subfertility and even in cases where pregnancy occurs, it often results in spontaneous miscarriage.

Published in BMC research notes, the authors present four cases of successful pregnancy outcomes in three patients diagnosed with Wilson’s disease along with the literature review. All the patients were managed with zinc sulphate without any postnatal complications.

Case 1
A 30 year old lady presented to our antenatal clinic during the first trimester of her pregnancy. She was diagnosed with Wilson’s disease at the age of twenty two while being investigated for involuntary generalized shaking of the body. Her laboratory investigations revealed increased level of copper in the urine and low serum ceruloplasmin.

She was prescribed Zinc Sulphate 50 mg twice daily subsequently. Her brother and a sister were also diagnosed to have Wilson’s disease. She had previously conceived on clomiphene after two years of subfertility but underwent two first trimester miscarriages and a stillbirth at 30 weeks of pregnancy due to preeclampsia and placental abruption.

Case 2
A 33 year old lady with a prior history of a missed miscarriage, presented to our antenatal clinic at six weeks of gestation. She was diagnosed to have Wilson’s disease four years ago while undergoing evaluation for muscle weakness. The urinary copper level was high while serum copper and cerulopasmin levels were found to be below normal limits and she was started on zinc sulphate three times a day.

Case 3
A 21 year old primigravida was diagnosed to have Wilson’s disease at the age of eighteen years when she started having symptoms of depression. The laboratory workup revealed an elevated level of copper in the urine (250 μg/day; normal value <60 μg/day) and low serum ceruloplasmin level (0.1 g/l; normal range 0.25-0.63 g/l). Her father was also diagnosed to have Wilson’s disease. She had been using zinc sulphate 60 mg three times a day and relaxipam 2 mg daily since the time of diagnosis and continued it throughout her pregnancy.

Case 4
The same patient conceived spontaneously one year later. Her antenatal visits were regular and unremarkable. She was asymptomatic for Wilson’s disease throughout the pregnancy. Serum ceruloplasmin levels were checked at 24 and 36 weeks of gestation which were 0.73 and 0.75 g/L, respectively. Anomaly and Growth scans were unremarkable.

Continue to read in detail here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015711/
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