Wilson's disease: Revisiting an old friend

Area of Science:

• Hepatology
• Genetics
• Neurology

Background:

• Wilson's disease (WD) is a rare, inherited autosomal recessive disorder.
• It results from a deficiency in the ATP7B transporter, leading to excessive copper accumulation in organs like the liver and brain.
• Over 800 mutations in the ATP7B gene are linked to WD.

Purpose of the Study:

• To provide a comprehensive overview of Wilson's disease.
• To emphasize the critical role of clinical suspicion in early diagnosis.
• To highlight current diagnostic and therapeutic strategies for WD.

Main Methods:

• This narrative review synthesizes existing literature on Wilson's disease.
• Diagnostic methods discussed include biochemical tests (ceruloplasmin, urinary copper), liver biopsy, and genetic testing.
• Treatment strategies evaluated include chelating agents and zinc therapy.

Main Results:

• WD presents with diverse clinical manifestations, frequently involving the liver and central nervous system, but can also be asymptomatic.
• Diagnosis relies on a combination of clinical findings and specific laboratory and genetic tests.
• Effective pharmacological therapies and, in severe cases, liver transplantation can alter the disease's natural history and improve survival.

Conclusions:

• Wilson's disease requires a high index of clinical suspicion, especially in patients with unexplained liver, neurological, or psychiatric symptoms.
• Accurate and timely diagnosis is crucial for initiating appropriate treatment.
• Management strategies, including chelating agents, zinc, and liver transplantation, are vital for improving outcomes in WD patients.