Wilson’s disease: A review of what we have learned

Abstract

Wilson’s disease (WD), which results from the defective ATP7B protein product, is characterized by impaired copper metabolism and its clinical consequences vary from an asymptomatic state to fulminant hepatic failure, chronic liver disease with or without cirrhosis, neurological, and psychiatric manifestations. A high grade of suspicion is warranted to not miss cases of WD, especially less florid cases with only mild elevation of transaminases, or isolated neuropsychiatric involvement. Screening in first and second relatives of index cases is mandatory, and treatment must commence upon establishment of diagnosis. Treatment strategies include chelators such as D-penicillamine and trientine, while zinc salts act as inductors of methallothioneins, which favor a negative copper balance and a reduction of free plasmatic copper. As an orphan disease, research is lacking in this field, especially regarding therapeutic strategies which are associated with better patient compliance and which could eventually also reverse established injury.

Keywords: Wilson’s disease; Wilson disease; Chelating agents; Penicillamine; Zinc; Copper; Orphan disease; Liver transplantation

Core tip: A century after its initial description by Kinnear Wilson in 1912, knowledge on diagnosis and management of Wilson’s disease reflect its prevalence as a rare disease, largely deriving from experts’ opinions and the use of pharmacological agents without the rigorous randomized clinical trials that are the mainstay. Prompt recognition and treatment are paramount and life-saving.