Wilson disease in pregnancy: A case series

Abstract

Rationale: Hepatolenticular degeneration, also known as Wilson disease (WD), is an autosomal recessive inherited disease characterized by copper metabolism, which has complex clinical manifestations, and mainly including liver and nervous system lesions. Pregnancy combined with WD is extremely harmful to mothers and children, with high miscarriage rates, and premature birth rates and perinatal mortality. Patient concerns: Here we introduced the basic information of 4 pregnant women with WD. The first pregnant woman had a 16-year history of WD, stopped taking penicillamine 1 year before pregnancy. The second woman had a 3-year history of WD and was taking penicillamine regularly, unintended pregnancy occurred 1 month after stopping the drug. The third woman had a history of WD for 5 years with penicillamine treatment. The 4th woman was found to have WD due to repeated missed miscarriage with abnormal liver function, after which penicillamine was regularly taken. Fortunately, she was pregnant again a year later. Diagnoses: The pregnant women in case 1 and case 2 were diagnosed with decompensated cirrhosis with coagulation dysfunction during pregnancy. The pregnant woman in case 3 was found to have liver cirrhosis by ultrasound, and the pregnant woman in case 4 did not have liver abnormalities during pregnancy. Interventions: The pregnant woman in case 1 began to take copper-removing drugs and take a low-copper diet after finding the aggravation of the disease in the early stage of pregnancy, and had good compliance during pregnancy. The pregnant woman in case 2 had poor compliance during pregnancy and did not receive any treatment. The pregnant woman in case 3 refused to use copper elimination drugs during pregnancy, but took a low copper diet. The pregnant woman in case 4 had good compliance during pregnancy, and she was treated with drugs and low copper diet during the whole pregnancy. Outcomes: Three of the four pregnant women got a healthy baby but premature, and only the pregnant woman in case 2 had spontaneous abortion at 25 weeks. Lessons: After comprehensive monitoring and multidisciplinary management of professional medical staff before and after pregnancy, WD pregnant women still have the opportunity to obtain a better pregnancy outcome and improve quality of life.

Investigating gastrointestinal disorders in pregnancy

“…The incidence of maternal Wilson disease in pregnancy ranges between 1 in 30,000 and 1 in 100,000 live births. 32 The diagnosis of Wilson disease in non-pregnant individuals is based upon a combination of clinical symptoms and signs, measures of copper, ceruloplasmin, and liver enzymes, hepatic copper and histology, and genetic testing. Serum ceruloplasmin levels and total serum copper progressively rise during healthy pregnancy from the sixth week of gestation such that third trimester serum copper levels are approximately double those of prepregnancy levels.…”

A Detail Insight of Wilson’s Disease and its Treatment

“…It is uncommon to have WD and pregnancy because the condition can cause infertility and recurrent abortions. Uncertainty exists on the exact cause 3 . In order to prevent the liver illness from getting worse or the development or exacerbation of neurological symptoms, it is crucial that individuals with Wilson disease who are pregnant maintain their medication.…”