Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism

Authors Georgios Loudianos, Simona Incollu, Eva Mameli, Maria B. Lepori.


Diagnosis of Wilson's disease (WD) still remains a challenge since no single test has an accuracy of 100%. Molecular testing for ATP7B gene mutations can help reach the diagnosis when routine testing is equivocal. We herein report an asymptomatic WD patient diagnosed accidentally by genetic analysis. This case suggests that WD is a challenge even in particular contexts such as family screening. Genetic testing of ATP7B gene should be recommended in the family members of WD patients with minimal alterations of specific tests such as ceruloplasmin, and presence of steatosis or increased body mass index.

Keywords Wilson's disease, asymptomatic, diagnosis, ATP7B mutation

Ann Gastroenterol 2016; 29 (1): 96-98

Case Reports