A unique case of a patient with Wilson disease presenting with solitary organ involvement and a rare ATP7B gene mutation has been recently described in a case report in the ACG Case Reports Journal.
The anomalous copper metabolism in patients with Wilson disease is caused by a mutation in the ATP7B gene. It typically leads to multiple organ involvement and a varied array of symptoms, including liver failure, kidney dysfunction, and neurological symptoms. To date, there are over 1000 reported ATP7B gene mutations.
Read more about Wilson disease etiology
The case was that of a 16-year-old boy admitted due to acute upper right abdominal pain, nausea, and vomiting; the family history revealed a sister who had died of hepatitis. The patient did not have any comorbidities and denied alcohol and tylenol consumption. Physical examination revealed severe jaundice and marked somnolence.
The admission workup was suggestive of acute liver failure; toxicology tests and serologies for hepatitis viruses, Epstein-Barr virus, cytomegalovirus, and total immunoglobulin G and A were negative. Ceruloplasmin was below the normal limit, and cooper excretion was abnormally high.
The patient was given supportive treatment for hepatic encephalopathy. He was diagnosed with liver failure due to Wilson disease and put on the transplant list. He subsequently underwent a successful liver transplant and is in stable condition.
“Our patient’s acute presentation is quite unique in comparison with the indolent course reported in the literature,” the authors wrote.
In-depth genetic analysis through whole-exome sequencing led to the identification of 2 novel genetic variants of the ATP7B gene (c.3446G>C and c.2355G>A). This was inherited from his father and appeared to lead to accelerated liver failure without any other organ involvement.
“The fact that our patient exclusively had liver failure without any other organ system involvement makes this novel mutation crucial for gastroenterologists and hepatologists because this gene mutation caused targeted injury toward hepatocytes,” the authors wrote.
Reference
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. Published online February 1, 2023. doi:10.14309/crj.0000000000000977
