Identifying Wilson disease (WD) as a differential diagnosis in cases with liver pathology could greatly benefit patients with uncommon presentations, according to a study recently published in ACG Case Reports Journal.

“Timely recognition and treatment can ensure a relatively normal life in patients with WD,” the authors wrote.

This case report describes a 16-year-old male who presented with a 3-day history of abdominal pain in the right upper quadrant, nausea, and vomiting. His medical history was unremarkable, and he denied using acetaminophen, alcohol, or other drugs. Upon questioning regarding family history, the patient had a sister who died of hepatitis.

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A physical exam revealed mucocutaneous jaundice and scleral icterus. The patient was somnolent and lethargic. Laboratory tests suggested acute liver failure, showing elevated white blood cell count, severe anemia, thrombocytopenia, hyponatremia, prolonged international normalized ratio, and elevated levels of creatinine, blood urea nitrogen, and total bilirubin.

Further workup included testing for several autoantibodies, viral and parasitological screening, a hepatitis panel, and iron, copper, alpha-1 antitrypsin, and toxicologic test studies, all of which were negative except for low ceruloplasmin levels and high 24-hour urine copper excretion.

The healthcare team diagnosed decompensated liver failure secondary to WD, and they initiated treatment with lactulose and supportive measures while planning for a liver transplant. The patient later underwent an orthotopic liver transplant with optimal evolution in the postoperative period.

Genetic testing revealed 2 different mutations of the ATP7B gene, c.3446G>C and c.2355G>A, which have not been previously reported as pathogenic variants for WD.

“Owing to the presence of several genotypic and phenotypic variances, diagnosis and thus timely treatment can be challenging,” the authors highlighted.

Given the impact of a timely diagnosis in patients with WD who present with acute liver failure, this entity should be considered as a differential diagnosis as a regular practice. Although rare, this disease may present without clear epidemiological or clinical signs, and its progression could be fast.


Awan RU, Rashid S, Nabeel A, Gangwani MK, Samant H. A novel mutation in the ATP7B gene: a rare manifestation of Wilson disease with liver failure. ACG Case Rep J. 2023;10(2):e00977. doi:10.14309/crj.0000000000000977