Wilson’s Disease Presenting as Acute Hepatitis in Pregnancy With Successful Maternal and Neonatal Outcomes: A Case Report

Authors

Paribesh Gyawali, College of Medical Sciences, Kathmandu University, NepalFollow
Ranjan Regmi, University of Nebraska Medical Center, Omaha,NE, USAFollow
Shambu Khanal, Tribhuvan University ,Institute of Medicine, Kathmandu, Nepal
Rajan Bhandari, College of Medical Sciences, Kathmandu University, Nepal
Shivani Gupta, Tribhuvan University Institute of Medicine, Kathmandu, Nepal
Gunjan Arora, University of Nebraska Medical Center, Omaha, NE, USA

ORCID (Optional)

https://orcid.org/0009-0007-8634-4208

Document Type

Case Report

Disciplines

Gastroenterology | Hepatology | Higher Education | Medicine and Health Sciences | Obstetrics and Gynecology

Abstract

Background: Wilson’s disease is a rare genetic disorder characterized by copper accumulation, leading to multi-organ symptoms. It affects between 1 in 30,000 to 1 in 100,000 individuals, with a mean age at diagnosis of 13.2 years. The diagnosis may be overlooked due to its numerous presentations, which can range from non-specific symptoms such as fever, fatigue, and behavioral changes to fulminant hepatic failure. Its clinical manifestations vary widely, making diagnosis during pregnancy particularly challenging. Wilson’s disease complicates pregnancy, as untreated cases can lead to significant morbidity and mortality; excess copper can disrupt metabolic processes and contribute to recurrent miscarriages.

Case: We present the case of a 19-year-old primigravida in her third trimester who initially presented with fever, jaundice, and upper abdominal pain. Initially diagnosed with acute hepatitis, her condition failed to improve. Physical examination revealed hepatomegaly and anemia. Laboratory tests showed Coomb's negative hemolytic anemia and elevated urine copper levels, raising suspicion of Wilson's disease. Confirmation was achieved with the detection of a Kayser-Fleischer ring upon eye examination. Treatment with penicillamine and zinc resulted in a successful maternal and neonatal outcome.

Conclusion: Wilson's disease can be difficult to diagnose during pregnancy, often mimicking acute hepatitis. It should be included in the differential diagnosis for jaundice, hepatomegaly, and hemolytic anemia in pregnant patients. Early recognition and treatment with penicillamine and zinc are essential for favorable outcomes for both mother and baby, even in resource-constrained settings.

DOI

https://doi.org/10.32873/unmc.dc.gmerj.6.2.009

Keywords

Anemia, hepatitis, jaundice, pregnancy, Wilson’s disease

Creative Commons License

This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

Recommended Citation

Gyawali, P., Regmi, R., Khanal, S., Bhandari, R., Gupta, S., , Arora, G. Wilson’s Disease Presenting as Acute Hepatitis in Pregnancy With Successful Maternal and Neonatal Outcomes: A Case Report. Graduate Medical Education Research Journal. 2024 Dec 31; 6(2).
https://digitalcommons.unmc.edu/gmerj/vol6/iss2/9